This gene encodes the catalytic subunit of the vitamin K epoxide reductase complex, which is responsible for the reduction of inactive vitamin K 2,3-epoxide to active vitamin K in the endoplasmic reticulum membrane. Vitamin K is a required co-factor for carboxylation of glutamic acid residues by vitamin K-dependent gamma-carboxylase in blood-clotting enzymes. Allelic variation ... See more...

Aliases for VKORC1 Gene

Aliases for VKORC1 Gene

  • Vitamin K Epoxide Reductase Complex Subunit 1 2 3 4 5
  • Vitamin K Dependent Clotting Factors Deficiency 2 2 3
  • Vitamin K1 2,3-Epoxide Reductase Subunit 1 3 4
  • VKOR 3 4
  • Vitamin K1 Epoxide Reductase (Warfarin-Sensitive) 3
  • Phylloquinone Epoxide Reductase 3
  • EC 1.17.4.4 4
  • EC 1.1.4.1 51
  • EDTP308 3
  • MST134 3
  • MST576 3
  • VKCFD2 3
  • VKORC1 5

External Ids for VKORC1 Gene

Previous HGNC Symbols for VKORC1 Gene

  • VKCFD2

Previous GeneCards Identifiers for VKORC1 Gene

  • GC16M031138
  • GC16M031009
  • GC16M028663

Summaries for VKORC1 Gene

Entrez Gene Summary for VKORC1 Gene

  • This gene encodes the catalytic subunit of the vitamin K epoxide reductase complex, which is responsible for the reduction of inactive vitamin K 2,3-epoxide to active vitamin K in the endoplasmic reticulum membrane. Vitamin K is a required co-factor for carboxylation of glutamic acid residues by vitamin K-dependent gamma-carboxylase in blood-clotting enzymes. Allelic variation in this gene is associated with vitamin k-dependent clotting factors combined deficiency of 2, and increased resistance or sensitivity to warfarin, an inhibitor of vitamin K epoxide reductase. Pseudogenes of this gene are located on chromosomes 1 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

GeneCards Summary for VKORC1 Gene

VKORC1 (Vitamin K Epoxide Reductase Complex Subunit 1) is a Protein Coding gene. Diseases associated with VKORC1 include Coumarin Resistance and Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 2. Among its related pathways are Metabolism of fat-soluble vitamins and Metabolism. Gene Ontology (GO) annotations related to this gene include quinone binding and vitamin-K-epoxide reductase (warfarin-sensitive) activity. An important paralog of this gene is ENSG00000255439.

UniProtKB/Swiss-Prot Summary for VKORC1 Gene

  • Involved in vitamin K metabolism. Catalytic subunit of the vitamin K epoxide reductase (VKOR) complex which reduces inactive vitamin K 2,3-epoxide to active vitamin K. Vitamin K is required for the gamma-carboxylation of various proteins, including clotting factors, and is required for normal blood coagulation, but also for normal bone development.

Gene Wiki entry for VKORC1 Gene

PharmGKB "VIP" Summary for VKORC1 Gene

No data available for CIViC Summary , Tocris Summary , Rfam classification and piRNA Summary for VKORC1 Gene

Genomics for VKORC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for VKORC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VKORC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VKORC1

Top Transcription factor binding sites by QIAGEN in the VKORC1 gene promoter:
  • Brachyury
  • COMP1
  • E47
  • Ik-1
  • Pax-5
  • POU2F1
  • POU2F1a
  • SEF-1 (1)
  • SRF
  • SRF (504 AA)

Genomic Locations for VKORC1 Gene

Genomic Locations for VKORC1 Gene
chr16:31,090,842-31,095,980
(GRCh38/hg38)
Size:
5,139 bases
Orientation:
Minus strand
chr16:31,102,163-31,107,301
(GRCh37/hg19)
Size:
5,139 bases
Orientation:
Minus strand

Genomic View for VKORC1 Gene

Genes around VKORC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VKORC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VKORC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VKORC1 Gene

Proteins for VKORC1 Gene

  • Protein details for VKORC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQB6-VKOR1_HUMAN
    Recommended name:
    Vitamin K epoxide reductase complex subunit 1
    Protein Accession:
    Q9BQB6
    Secondary Accessions:
    • A6NIQ6
    • B2R4Z6
    • Q6UX90
    • Q7Z2R4

    Protein attributes for VKORC1 Gene

    Size:
    163 amino acids
    Molecular mass:
    18235 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ88821.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • The location of two cysteine active-site residues within a proposed transmembrane is consistent both with the known hydrophobic environment of the thiol redox site of the enzyme and with the lipophilicity of vitamin K and warfarin (coumadin).

    Alternative splice isoforms for VKORC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VKORC1 Gene

Selected DME Specific Peptides for VKORC1 Gene

Q9BQB6:
  • LNQSNSIFGC
  • YLAWILFFVLYDFCIVCITTYAIN
  • YRALCDVGTAISCSRVFSSRWGRGFGLVEH

Post-translational modifications for VKORC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for VKORC1
  • Boster Bio Antibodies for VKORC1

Domains & Families for VKORC1 Gene

Gene Families for VKORC1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for VKORC1 Gene

InterPro:
Blocks:
  • Vitamin K epoxide reductase
ProtoNet:

Suggested Antigen Peptide Sequences for VKORC1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ76521, highly similar to Homo sapiens vitamin K epoxide reductase complex, subunit 1 (VKORC1), transcript variant 2, mRNA (A6NIQ6_HUMAN)
  • Vitamin K epoxide reductase complex (B5B596_HUMAN)
  • Vitamin K epoxide reductase complex subunit 1 (E2DSP6_HUMAN)
  • Vitamin K epoxide reductase complex subunit 1 (E7BQW0_HUMAN)
  • Vitamin K1 2,3-epoxide reductase subunit 1 (VKOR1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BQB6

UniProtKB/Swiss-Prot:

VKOR1_HUMAN :
  • The number of transmembrane domains and the membrane topology are controversial; supporting evidence is available both for models with three transmembrane domains (PubMed:15716279 and PubMed:22923610) and four transmembrane domains (PubMed:20696932 and PubMed:20978134). According to PubMed:15716279 and PubMed:22923610 the N-terminus of the protein is in the endoplasmic reticulum lumen, while the C-terminus is in the cytosol, which is in favor of three transmembrane domains. According to PubMed:20696932, both N-terminus and C-terminus are in the cytosol, indicating the presence of four transmembrane domains. Besides, the 3D-structure of a bacterial ortholog shows four transmembrane domains. Moreover, proteins that reside in the endoplasmic reticulum lumen can catalyze the reduction of the active site cysteines, possibly via Cys-43 and Cys-51 (PubMed:20696932 and PubMed:20978134), but less efficiently than the synthetic compound dithiothreitol (in vitro). Location of Cys-43 and Cys-51 in the endoplasmic reticulum lumen would be in agreement with four transmembrane domains. Again, these data are controversial, and papers do not agree on the effects of mutating Cys-43 and Cys-51, probably because of differences in the assay systems.
  • Belongs to the VKOR family.
Domain:
  • The number of transmembrane domains and the membrane topology are controversial; supporting evidence is available both for models with three transmembrane domains (PubMed:15716279 and PubMed:22923610) and four transmembrane domains (PubMed:20696932 and PubMed:20978134). According to PubMed:15716279 and PubMed:22923610 the N-terminus of the protein is in the endoplasmic reticulum lumen, while the C-terminus is in the cytosol, which is in favor of three transmembrane domains. According to PubMed:20696932, both N-terminus and C-terminus are in the cytosol, indicating the presence of four transmembrane domains. Besides, the 3D-structure of a bacterial ortholog shows four transmembrane domains. Moreover, proteins that reside in the endoplasmic reticulum lumen can catalyze the reduction of the active site cysteines, possibly via Cys-43 and Cys-51 (PubMed:20696932 and PubMed:20978134), but less efficiently than the synthetic compound dithiothreitol (in vitro). Location of Cys-43 and Cys-51 in the endoplasmic reticulum lumen would be in agreement with four transmembrane domains. Again, these data are controversial, and papers do not agree on the effects of mutating Cys-43 and Cys-51, probably because of differences in the assay systems.
Family:
  • Belongs to the VKOR family.
genes like me logo Genes that share domains with VKORC1: view

Function for VKORC1 Gene

Molecular function for VKORC1 Gene

UniProtKB/Swiss-Prot Function:
Involved in vitamin K metabolism. Catalytic subunit of the vitamin K epoxide reductase (VKOR) complex which reduces inactive vitamin K 2,3-epoxide to active vitamin K. Vitamin K is required for the gamma-carboxylation of various proteins, including clotting factors, and is required for normal blood coagulation, but also for normal bone development.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[protein]-disulfide + H2O + phylloquinone = 2,3-epoxyphylloquinone + [protein]-dithiol; Xref=Rhea:RHEA:13817, Rhea:RHEA-COMP:10593, Rhea:RHEA-COMP:10594, ChEBI:CHEBI:15377, ChEBI:CHEBI:15759, ChEBI:CHEBI:18067, ChEBI:CHEBI:29950, ChEBI:CHEBI:50058; EC=1.17.4.4; Evidence={ECO:0000269|PubMed:15879509, ECO:0000269|PubMed:16270630, ECO:0000269|PubMed:20978134, ECO:0000269|PubMed:22923610};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[protein]-disulfide + phylloquinol = [protein]-dithiol + phylloquinone; Xref=Rhea:RHEA:57744, Rhea:RHEA-COMP:10593, Rhea:RHEA-COMP:10594, ChEBI:CHEBI:18067, ChEBI:CHEBI:28433, ChEBI:CHEBI:29950, ChEBI:CHEBI:50058; EC=1.17.4.4; Evidence={ECO:0000269|PubMed:15879509, ECO:0000269|PubMed:16270630, ECO:0000269|PubMed:20978134, ECO:0000269|PubMed:22923610};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by warfarin (coumadin).

Enzyme Numbers (IUBMB) for VKORC1 Gene

Phenotypes From GWAS Catalog for VKORC1 Gene

Gene Ontology (GO) - Molecular Function for VKORC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22046132
GO:0016491 oxidoreductase activity IEA --
GO:0047057 vitamin-K-epoxide reductase (warfarin-sensitive) activity IEA,IDA 16270630
GO:0047058 vitamin-K-epoxide reductase (warfarin-insensitive) activity IEA --
GO:0048038 quinone binding IEA --
genes like me logo Genes that share ontologies with VKORC1: view
genes like me logo Genes that share phenotypes with VKORC1: view

Human Phenotype Ontology for VKORC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for VKORC1 Gene

MGI Knock Outs for VKORC1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VKORC1

No data available for Transcription Factor Targets and HOMER Transcription for VKORC1 Gene

Localization for VKORC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VKORC1 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for VKORC1 gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
extracellular 2
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for VKORC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with VKORC1: view

Pathways & Interactions for VKORC1 Gene

genes like me logo Genes that share pathways with VKORC1: view

Pathways by source for VKORC1 Gene

Gene Ontology (GO) - Biological Process for VKORC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007596 blood coagulation IBA,IMP 16270630
GO:0010243 response to organonitrogen compound IEA --
GO:0014070 response to organic cyclic compound IEA --
GO:0017144 drug metabolic process IMP 21127708
GO:0017187 peptidyl-glutamic acid carboxylation IMP 20978134
genes like me logo Genes that share ontologies with VKORC1: view

No data available for SIGNOR curated interactions for VKORC1 Gene

Drugs & Compounds for VKORC1 Gene

(81) Drugs for VKORC1 Gene - From: DrugBank, PharmGKB, ClinicalTrials, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acenocoumarol Approved, Investigational Pharma Target, inhibitor 44
Warfarin Approved Pharma Target, inhibitor 609
Phenprocoumon Approved, Investigational Pharma Target, inhibitor 37
Menadione Approved Nutra Target, cofactor, inhibitor 327
Dicumarol Approved Pharma Target, inhibitor 0

(14) Additional Compounds for VKORC1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2,3-Butanediol
  • 2,3-Butylene glycol
  • 2,3-Dihydroxybutane
  • Dimethylene glycol
  • Dimethylethylene glycol
  • Pseudobutylene glycol
513-85-9
2,3-Epoxymenaquinone
  • Vitamin K2 2,3-epoxide
  • Vitamin K2-2,3-epoxide
Glucosylceramide (d18:1/16:0)
  • beta-D-Glucosyl-N-palmitoylsphinganine
  • GlcCer(D18:1/16:0)
  • N-(Hexadecanoyl)-1-beta-glucosyl-sphing-4-enine
  • b-D-Glucosyl-N-palmitoylsphinganine
  • β-D-glucosyl-N-palmitoylsphinganine
Oxidized dithiothreitol
  • DITHIANE diol
S-6-Hydroxywarfarin
genes like me logo Genes that share compounds with VKORC1: view

Transcripts for VKORC1 Gene

mRNA/cDNA for VKORC1 Gene

3 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VKORC1

Alternative Splicing Database (ASD) splice patterns (SP) for VKORC1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c · 4d
SP1: - -
SP2: - - -
SP3: - -
SP4: - - - -
SP5: -

Relevant External Links for VKORC1 Gene

GeneLoc Exon Structure for
VKORC1

Expression for VKORC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for VKORC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for VKORC1 Gene

This gene is overexpressed in Liver (x4.3).

Protein differential expression in normal tissues from HIPED for VKORC1 Gene

This gene is overexpressed in Pancreas (10.5) and Islet of Langerhans (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for VKORC1 Gene



Protein tissue co-expression partners for VKORC1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VKORC1

SOURCE GeneReport for Unigene cluster for VKORC1 Gene:

Hs.324844

mRNA Expression by UniProt/SwissProt for VKORC1 Gene:

Q9BQB6-VKOR1_HUMAN
Tissue specificity: Expressed at highest levels in fetal and adult liver, followed by fetal heart, kidney, and lung, adult heart, and pancreas.

Evidence on tissue expression from TISSUES for VKORC1 Gene

  • Nervous system(4.7)
  • Kidney(4.6)
  • Lung(4.5)
  • Pancreas(3.7)
  • Liver(3.4)
  • Skin(3.1)
  • Heart(3)
  • Blood(2.8)
  • Muscle(2.5)
  • Thyroid gland(2.3)
  • Intestine(2.3)
  • Stomach(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for VKORC1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • skeleton
Regions:
Head and neck:
  • face
  • head
  • nose
  • skull
Thorax:
  • clavicle
  • thymus
Abdomen:
  • liver
  • spleen
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with VKORC1: view

Orthologs for VKORC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for VKORC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia VKORC1 30 31
  • 99.59 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia VKORC1 30 31
  • 87.93 (n)
OneToMany
Cow
(Bos Taurus)
Mammalia VKORC1 30 31
  • 87.73 (n)
OneToMany
Mouse
(Mus musculus)
Mammalia Gm21974 31
  • 85 (a)
ManyToMany
Vkorc1 30 17 31
  • 83.02 (n)
ManyToMany
Rat
(Rattus norvegicus)
Mammalia Vkorc1 30
  • 83.96 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 52 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 52 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia LOC398467 30
Zebrafish
(Danio rerio)
Actinopterygii vkorc1 30 31
  • 56.04 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Vkor 30 31
  • 47.49 (n)
OneToMany
Species where no ortholog for VKORC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for VKORC1 Gene

ENSEMBL:
Gene Tree for VKORC1 (if available)
TreeFam:
Gene Tree for VKORC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VKORC1: view image

Paralogs for VKORC1 Gene

Paralogs for VKORC1 Gene

(1) SIMAP similar genes for VKORC1 Gene using alignment to 9 proteins:

  • VKOR1_HUMAN
  • A8MV79_HUMAN
  • B5B596_HUMAN
  • E2DSP6_HUMAN
  • E7BQW0_HUMAN
  • F2Z3Q2_HUMAN
  • F8W9H0_HUMAN
  • H0YF24_HUMAN
  • I3L1P9_HUMAN

Pseudogenes.org Pseudogenes for VKORC1 Gene

genes like me logo Genes that share paralogs with VKORC1: view

Variants for VKORC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VKORC1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
692018 Conflicting Interpretations: Warfarin response; Vitamin K-dependent clotting factors, combined deficiency of, 2 31,093,399(-) C/T MISSENSE_VARIANT,INTRON_VARIANT
791061 Benign/Likely Benign: Vitamin K-dependent clotting factors, combined deficiency of, 2; not provided 31,094,601(-) G/A SYNONYMOUS_VARIANT
884452 Uncertain Significance: Vitamin K-dependent clotting factors, combined deficiency of, 2 31,094,613(-) G/A SYNONYMOUS_VARIANT
884453 Uncertain Significance: Vitamin K-dependent clotting factors, combined deficiency of, 2 31,094,676(-) C/A SYNONYMOUS_VARIANT
884454 Uncertain Significance: Vitamin K-dependent clotting factors, combined deficiency of, 2 31,094,731(-) A/G FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for VKORC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for VKORC1 Gene

Variant ID Type Subtype PubMed ID
esv999616 CNV gain 20482838
nsv457483 CNV loss 19166990
nsv571820 CNV loss 21841781
nsv833193 CNV gain+loss 17160897

Variation tolerance for VKORC1 Gene

Residual Variation Intolerance Score: 88.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.21; 4.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VKORC1 Gene

Human Gene Mutation Database (HGMD)
VKORC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VKORC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VKORC1 Gene

Disorders for VKORC1 Gene

MalaCards: The human disease database

(22) MalaCards diseases for VKORC1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
coumarin resistance
  • coumarin, poor metabolism of
vitamin k-dependent clotting factors, combined deficiency of, 2
  • vkcfd2
hereditary combined deficiency of vitamin k-dependent clotting factors
  • hereditary combined deficiency of factors ii, vii, ix and x
retinal vascular occlusion
  • retinal vasc. occlusion
atrial fibrillation
  • a-fib
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

VKOR1_HUMAN
  • Combined deficiency of vitamin K-dependent clotting factors 2 (VKCFD2) [MIM:607473]: VKCFD leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. {ECO:0000269 PubMed:14765194, ECO:0000269 PubMed:16270630}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Coumarin resistance (CMRES) [MIM:122700]: A condition characterized by partial or complete resistance to warfarin or other 4-hydroxycoumarin derivatives. These drugs are used as anti-coagulants for the prevention of thromboembolic diseases in subjects with deep vein thrombosis, atrial fibrillation, or mechanical heart valve replacement. {ECO:0000269 PubMed:14765194, ECO:0000269 PubMed:20946155}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for VKORC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with VKORC1: view

No data available for Genatlas for VKORC1 Gene

Publications for VKORC1 Gene

  1. The c.-1639G > A polymorphism of the VKORC1 gene is a major determinant of the response to acenocoumarol in anticoagulated patients. (PMID: 16611310) Montes R … Hermida J (British journal of haematology 2006) 3 23 26 41
  2. Cytochrome P450 2C9 (CYP2C9) and vitamin K epoxide reductase (VKORC1) genotypes as determinants of acenocoumarol sensitivity. (PMID: 15790782) Bodin L … Loriot MA (Blood 2005) 3 23 26 41
  3. A C1173T dimorphism in the VKORC1 gene determines coumarin sensitivity and bleeding risk. (PMID: 16201835) Reitsma PH … Büller HR (PLoS medicine 2005) 3 23 26 41
  4. Genotype polymorphisms of GGCX, NQO1, and VKORC1 genes associated with risk susceptibility in patients with large-artery atherosclerotic stroke. (PMID: 20193673) Shyu HY … Cheng CW (Clinica chimica acta; international journal of clinical chemistry 2010) 3 23 41
  5. Impact of VKORC1 gene polymorphism on interindividual and interethnic warfarin dosage requirement--a systematic review and meta analysis. (PMID: 19942260) Yang L … Zhu H (Thrombosis research 2010) 3 23 41

Products for VKORC1 Gene

  • Signalway ELISA kits for VKORC1
  • Signalway Proteins for VKORC1

Sources for VKORC1 Gene