This gene is a proto-oncogene and encodes a nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. The encoded protein forms a heterodimer with the related transcription factor MAX. This complex binds to the E box DNA consensus sequence and regulates the transcription of specific target genes. Amplification of this gene is fre... See more...

Aliases for MYC Gene

Aliases for MYC Gene

  • MYC Proto-Oncogene, BHLH Transcription Factor 2 3 5
  • BHLHe39 2 3 4
  • V-Myc Avian Myelocytomatosis Viral Oncogene Homolog 2 3
  • Class E Basic Helix-Loop-Helix Protein 39 3 4
  • Myc Proto-Oncogene Protein 3 4
  • Transcription Factor P64 3 4
  • Proto-Oncogene C-Myc 3 4
  • C-Myc 2 3
  • MYCC 2 3
  • Myc-Related Translation/Localization Regulatory Factor 3
  • Avian Myelocytomatosis Viral Oncogene Homolog 3
  • V-Myc Myelocytomatosis Viral Oncogene Homolog 3
  • BHLHE39 4
  • MRTL 3
  • MYC 5

External Ids for MYC Gene

Previous GeneCards Identifiers for MYC Gene

  • GC08P127757
  • GC08P128836
  • GC08P128419
  • GC08P128705
  • GC08P128817
  • GC08P128748
  • GC08P124069

Summaries for MYC Gene

Entrez Gene Summary for MYC Gene

  • This gene is a proto-oncogene and encodes a nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. The encoded protein forms a heterodimer with the related transcription factor MAX. This complex binds to the E box DNA consensus sequence and regulates the transcription of specific target genes. Amplification of this gene is frequently observed in numerous human cancers. Translocations involving this gene are associated with Burkitt lymphoma and multiple myeloma in human patients. There is evidence to show that translation initiates both from an upstream, in-frame non-AUG (CUG) and a downstream AUG start site, resulting in the production of two isoforms with distinct N-termini. [provided by RefSeq, Aug 2017]

CIViC Summary for MYC Gene

GeneCards Summary for MYC Gene

MYC (MYC Proto-Oncogene, BHLH Transcription Factor) is a Protein Coding gene. Diseases associated with MYC include Burkitt Lymphoma and High Grade B-Cell Lymphoma With Myc And/ Or Bcl2 And/Or Bcl6 Rearrangement. Among its related pathways are Association Between Physico-Chemical Features and Toxicity Associated Pathways and Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is MYCN.

UniProtKB/Swiss-Prot Summary for MYC Gene

  • Transcription factor that binds DNA in a non-specific manner, yet also specifically recognizes the core sequence 5'-CAC[GA]TG-3'. Activates the transcription of growth-related genes. Binds to the VEGFA promoter, promoting VEGFA production and subsequent sprouting angiogenesis (PubMed:24940000). Regulator of somatic reprogramming, controls self-renewal of embryonic stem cells. Functions with TAF6L to activate target gene expression through RNA polymerase II pause release (By similarity).

Gene Wiki entry for MYC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYC Gene

Genomics for MYC Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MYC 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 MYC on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the MYC gene promoter:
  • GATA-1
  • STAT3
  • TBP

Genomic Locations for MYC Gene

Genomic Locations for MYC Gene
chr8:127,735,434-127,742,951
(GRCh38/hg38)
Size:
7,518 bases
Orientation:
Plus strand
chr8:128,747,680-128,753,680
(GRCh37/hg19)
Size:
6,001 bases
Orientation:
Plus strand

Genomic View for MYC Gene

Genes around MYC on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MYC Gene

Proteins for MYC Gene

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

    Protein Symbol:
    P01106-MYC_HUMAN
    Recommended name:
    Myc proto-oncogene protein
    Protein Accession:
    P01106
    Secondary Accessions:
    • A8WFE7
    • P01107
    • Q14026

    Protein attributes for MYC Gene

    Size:
    439 amino acids
    Molecular mass:
    48804 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MAX (PubMed:9680483). Interacts with TAF1C and SPAG9. Interacts with PARP10. Interacts with KDM5A and KDM5B. Interacts (when phosphorylated at Thr-58 and Ser-62) with FBXW7(PubMed:25775507, PubMed:17558397). Interacts with PIM2. Interacts with RIOX1. The heterodimer MYC:MAX interacts with ABI1; the interaction may enhance MYC:MAX transcriptional activity. Interacts with TRIM6 (By similarity). Interacts with NPM1; the binary complex is recruited to the promoter of MYC target genes and enhances their transcription (PubMed:25956029). Interacts with CIP2A; leading to the stabilization of MYC (PubMed:17632056).
    Miscellaneous:
    • [Isoform 2]: Initiates from CTG codon.

    Three dimensional structures from OCA and Proteopedia for MYC Gene

    Alternative splice isoforms for MYC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYC Gene

Post-translational modifications for MYC Gene

  • Phosphorylated by PRKDC. Phosphorylation at Ser-329 by PIM2 leads to the stabilization of MYC (By similarity). Phosphorylation at Ser-62 by CDK2 prevents Ras-induced senescence. Phosphorylated at Ser-62 by DYRK2; this primes the protein for subsequent phosphorylation by GSK3B at Thr-58. Phosphorylation at Thr-58 and Ser-62 by GSK3 is required for ubiquitination and degradation by the proteasome.
  • Ubiquitinated by the SCF(FBXW7) complex when phosphorylated at Thr-58 and Ser-62, leading to its degradation by the proteasome. In the nucleoplasm, ubiquitination is counteracted by USP28, which interacts with isoform 1 of FBXW7 (FBW7alpha), leading to its deubiquitination and preventing degradation. In the nucleolus, however, ubiquitination is not counteracted by USP28 but by USP36, due to the lack of interaction between isoform 3 of FBXW7 (FBW7gamma) and USP28, explaining the selective MYC degradation in the nucleolus (PubMed:25775507,PubMed:17558397). Also polyubiquitinated by the DCX(TRUSS) complex. Ubiquitinated by TRIM6 in a phosphorylation-independent manner (By similarity).
  • Glycosylation at Thr58
  • Ubiquitination at Lys148 and Lys389
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • MYC_HUMAN (426)

Antibody Products

  • Abcam antibodies for MYC

No data available for DME Specific Peptides for MYC Gene

Domains & Families for MYC Gene

Gene Families for MYC Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transcription factors

Protein Domains for MYC Gene

InterPro:
Blocks:
  • Basic helix-loop-helix dimerization domain bHLH
  • Myc proto-oncogene signature
  • Leucine zipper, Myc
ProtoNet:

Suggested Antigen Peptide Sequences for MYC Gene

GenScript: Design optimal peptide antigens:
  • C-myc protein (A0N2G3_HUMAN)
  • V-myc myelocytomatosis viral oncogene homolog (B0B0N9_HUMAN)
  • V-myc myelocytomatosis viral oncogene homolog (B3CJ63_HUMAN)
  • V-myc myelocytomatosis viral oncogene homolog (B3CJ64_HUMAN)
  • V-myc myelocytomatosis viral oncogene homolog (B3CJ65_HUMAN)
genes like me logo Genes that share domains with MYC: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MYC Gene

Function for MYC Gene

Molecular function for MYC Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that binds DNA in a non-specific manner, yet also specifically recognizes the core sequence 5'-CAC[GA]TG-3'. Activates the transcription of growth-related genes. Binds to the VEGFA promoter, promoting VEGFA production and subsequent sprouting angiogenesis (PubMed:24940000). Regulator of somatic reprogramming, controls self-renewal of embryonic stem cells. Functions with TAF6L to activate target gene expression through RNA polymerase II pause release (By similarity).
GENATLAS Biochemistry:
Avian myelocytomatosis viral (v-myc). Oncogene homolog,erythropoietin early response gene,interacting with various cellular factors including MAX,YY1,AMPHL, for binding E box recognition sites,stimulating genes required for proliferation,also inducing apoptosis in sensitive cells,involved in lymphomagenesis (diffuse large B cell lymphoma)

Phenotypes From GWAS Catalog for MYC Gene

Gene Ontology (GO) - Molecular Function for MYC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IMP 19786833
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IMP,ISM 19274049
GO:0001046 core promoter sequence-specific DNA binding IDA 30873824
GO:0001047 core promoter binding IDA --
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IMP 19786833
genes like me logo Genes that share ontologies with MYC: view

Phenotypes for MYC Gene

MGI mutant phenotypes for MYC:
inferred from 21 alleles
GenomeRNAi human phenotypes for MYC:
genes like me logo Genes that share phenotypes with MYC: view

Human Phenotype Ontology for MYC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYC Gene

MGI Knock Outs for MYC:
  • Myc Myc<tm1Brd>
  • Myc Myc<tm1Atp>
  • Myc Myc<tm1Lbox>
  • Myc Myc<tm39Mnz>
  • Myc Myc<tm1Jlc>

Animal Model Products

CRISPR Products

miRNA for MYC Gene

miRTarBase miRNAs that target MYC

Transcription Factor Targets for MYC Gene

Selected GeneGlobe predicted Target genes for MYC
Targeted motifs for MYC Gene
HOMER Transcription Factor Regulatory Elements motif MYC
  • Consensus sequence: GNCCACGTGG Submotif: canonical Cell Type: mES GEO ID: GSE11431

Inhibitory RNA Products

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

Clone Products

  • Addgene plasmids for MYC

No data available for Enzyme Numbers (IUBMB) for MYC Gene

Localization for MYC Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYC Gene

Nucleus, nucleoplasm. Nucleus, nucleolus.

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 MYC gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 3
extracellular 3
cytoskeleton 3
mitochondrion 3
endoplasmic reticulum 3
endosome 3
lysosome 3
golgi apparatus 3
peroxisome 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MYC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IMP,ISA --
GO:0005623 cell IEA --
GO:0005634 nucleus TAS,IDA 11793365
GO:0005635 nuclear envelope IDA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with MYC: view

Pathways & Interactions for MYC Gene

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

Pathways by source for MYC Gene

17 GeneGo (Thomson Reuters) pathways for MYC Gene
  • Apoptosis and survival_Anti-apoptotic action of nuclear ESR1 and ESR2
  • Cell cycle ESR1 regulation of G1/S transition
  • Development A3 receptor signaling
  • Development EGFR signaling pathway
  • Development EGFR signaling via small GTPases
1 Tocris pathway for MYC Gene
24 Qiagen pathways for MYC Gene
  • Colorectal Cancer Metastasis
  • EGF Pathway
  • Endothelin-1 Signaling Pathway
  • ErbB2-ErbB3 Heterodimers
  • ERK Signaling
1 Cell Signaling Technology pathway for MYC Gene

Gene Ontology (GO) - Biological Process for MYC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 19786833
GO:0000165 MAPK cascade IMP 17873522
GO:0000320 re-entry into mitotic cell cycle IEA --
GO:0001541 ovarian follicle development IEA --
genes like me logo Genes that share ontologies with MYC: view

Drugs & Compounds for MYC Gene

(92) Drugs for MYC Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 3412
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 2451
Aspirin Approved, Vet_approved Pharma Channel blocker, Target, downregulator 1512
Nadroparin Approved, Investigational Pharma Target, inhibitor 40
Lenograstim Approved, Investigational Pharma 1339

(66) Additional Compounds for MYC Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for MYC Gene

Compound Action Cas Number
10058-F4 C-Myc-Max dimerization inhibitor 403811-55-2
genes like me logo Genes that share compounds with MYC: view

Transcripts for MYC Gene

mRNA/cDNA for MYC Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
10 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 MYC

Clone Products

  • Addgene plasmids for MYC

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3
SP1:
SP2:

Relevant External Links for MYC Gene

GeneLoc Exon Structure for
MYC

Expression for MYC Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Adipose - Visceral (Omentum) (x4.9) and Skin - Not Sun Exposed (Suprapubic) (x4.5).

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



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

SOURCE GeneReport for Unigene cluster for MYC Gene:

Hs.202453

Evidence on tissue expression from TISSUES for MYC Gene

  • Nervous system(4.5)
  • Intestine(4.1)
  • Blood(4)
  • Liver(3.9)
  • Skin(3.8)
  • Kidney(3.7)
  • Muscle(3.7)
  • Lymph node(3.6)
  • Bone marrow(3.6)
  • Pancreas(3.5)
  • Stomach(3.5)
  • Heart(3.5)
  • Spleen(3.4)
  • Lung(3.4)
  • Adrenal gland(3.1)
  • Thyroid gland(3)
  • Bone(2.9)
  • Gall bladder(2.9)
  • Eye(2.9)
  • Urine(2.2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • lymphatic
  • nervous
  • reproductive
  • skeleton
Regions:
Head and neck:
  • brain
  • head
  • jaw
  • mandible
  • skull
Abdomen:
  • intestine
Pelvis:
  • ovary
  • pelvis
  • testicle
General:
  • blood
  • bone marrow
  • lymph node
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with MYC: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for MYC Gene

Orthologs for MYC Gene

This gene was present in the common ancestor of animals.

Orthologs for MYC Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MYC 30 31
  • 99.71 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MYC 30 31
  • 91 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MYC 30 31
  • 90.21 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Myc 30 17
  • 87.49 (n)
Bmyc 31
  • 54 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Myc 30
  • 86.87 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia MYC 31
  • 86 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MYC 31
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MYC 30 31
  • 75.9 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MYC 31
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia MGC76254 30 30
  • 70.94 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC52595 30
Zebrafish
(Danio rerio)
Actinopterygii mycb 30 31
  • 65.08 (n)
OneToMany
myca 31
  • 58 (a)
OneToMany
mych 31
  • 33 (a)
OneToMany
-- 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11908 30
Fruit Fly
(Drosophila melanogaster)
Insecta dm 31
  • 13 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 11 (a)
OneToMany
Species where no ortholog for MYC 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)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MYC Gene

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

Paralogs for MYC Gene

Paralogs for MYC Gene

(4) SIMAP similar genes for MYC Gene using alignment to 57 proteins:

  • MYC_HUMAN
  • A0N2G3_HUMAN
  • B0B0N9_HUMAN
  • B3CJ63_HUMAN
  • B3CJ64_HUMAN
  • B3CJ65_HUMAN
  • B3CJ66_HUMAN
  • B3CJ69_HUMAN
  • B3CJ71_HUMAN
  • B3CJ72_HUMAN
  • B3CJ73_HUMAN
  • B3CJ74_HUMAN
  • B3CJ75_HUMAN
  • B3CJ76_HUMAN
  • B3CJ77_HUMAN
  • B3CJ78_HUMAN
  • B3CJ81_HUMAN
  • B3CJ82_HUMAN
  • B3CJ86_HUMAN
  • B3CJ87_HUMAN
  • B3CJ88_HUMAN
  • B3CJ89_HUMAN
  • B3CJ90_HUMAN
  • B3CJ91_HUMAN
  • B3CJ92_HUMAN
  • B3CJ93_HUMAN
  • B3CJ94_HUMAN
  • B3CJA1_HUMAN
  • B3CJA3_HUMAN
  • B3CJA4_HUMAN
  • B3CJA7_HUMAN
  • B3CJA8_HUMAN
  • B3CJA9_HUMAN
  • B3CJB0_HUMAN
  • B3CJB1_HUMAN
  • B3CJB2_HUMAN
  • B3CJB3_HUMAN
  • B3CJB8_HUMAN
  • B3CJB9_HUMAN
  • B3CJC0_HUMAN
  • B3CJC6_HUMAN
  • B3CJC7_HUMAN
  • B3CJC8_HUMAN
  • B3CJD1_HUMAN
  • B3CJD2_HUMAN
  • B3CJD3_HUMAN
  • B3CJD5_HUMAN
  • B3CJD6_HUMAN
  • B3CJD7_HUMAN
  • B3CJD8_HUMAN
  • B3CJD9_HUMAN
  • B3CJE0_HUMAN
  • E5RGD7_HUMAN
  • H0YBG3_HUMAN
  • H0YBT0_HUMAN
  • Q14901_HUMAN
  • Q16591_HUMAN
genes like me logo Genes that share paralogs with MYC: view

Variants for MYC Gene

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

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
719682 Benign: not provided 127,740,678(+) C/T MISSENSE_VARIANT
722844 Benign: not provided 127,738,281(+) T/C MISSENSE_VARIANT
791168 Benign: not provided 127,738,361(+) G/A SYNONYMOUS_VARIANT
rs1057519849 Likely Pathogenic: Neoplasm 127,738,386(+) C/T MISSENSE_VARIANT