This gene encodes a member of the E protein (class I) family of helix-loop-helix transcription factors. E proteins activate transcription by binding to regulatory E-box sequences on target genes as heterodimers or homodimers, and are inhibited by heterodimerization with inhibitor of DNA-binding (class IV) helix-loop-helix proteins. E proteins play a critical role in lymphopoies... See more...

Aliases for TCF3 Gene

Aliases for TCF3 Gene

  • Transcription Factor 3 2 3 4 5
  • Immunoglobulin Transcription Factor 1 2 3 4
  • Transcription Factor E2-Alpha 2 3 4
  • Kappa-E2-Binding Factor 2 3 4
  • BHLHb21 2 3 4
  • ITF1 2 3 4
  • E2A 2 3 4
  • Class B Basic Helix-Loop-Helix Protein 21 3 4
  • Transcription Factor ITF-1 3 4
  • VDR Interacting Repressor 2 3
  • TCF-3 3 4
  • VDIR 2 3
  • E47 2 3
  • P75 2 3
  • Transcription Factor 3 (E2A Immunoglobulin Enhancer Binding Factors E12/E47) 3
  • Negative Vitamin D Response Element-Binding Protein 3
  • E2A Immunoglobulin Enhancer-Binding Factor E12/E47 2
  • Immunoglobulin Enhancer-Binding Factor E12/E47 4
  • Vitamin D Receptor-Interacting Repressor 3
  • E2A-HLF Fusion Transcript Protein 3
  • Transcription Factor 3 Variant 3 3
  • Helix-Loop-Helix Protein HE47 3
  • NOL1-TCF3 Fusion 3
  • MGC129647 2
  • MGC129648 2
  • BHLHB21 4
  • AGM8 3
  • TCF3 5

External Ids for TCF3 Gene

Previous GeneCards Identifiers for TCF3 Gene

  • GC19M001671
  • GC19M001549
  • GC19M001560
  • GC19M001384

Summaries for TCF3 Gene

Entrez Gene Summary for TCF3 Gene

  • This gene encodes a member of the E protein (class I) family of helix-loop-helix transcription factors. E proteins activate transcription by binding to regulatory E-box sequences on target genes as heterodimers or homodimers, and are inhibited by heterodimerization with inhibitor of DNA-binding (class IV) helix-loop-helix proteins. E proteins play a critical role in lymphopoiesis, and the encoded protein is required for B and T lymphocyte development. Deletion of this gene or diminished activity of the encoded protein may play a role in lymphoid malignancies. This gene is also involved in several chromosomal translocations that are associated with lymphoid malignancies including pre-B-cell acute lymphoblastic leukemia (t(1;19), with PBX1), childhood leukemia (t(19;19), with TFPT) and acute leukemia (t(12;19), with ZNF384). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Sep 2011]

GeneCards Summary for TCF3 Gene

TCF3 (Transcription Factor 3) is a Protein Coding gene. Diseases associated with TCF3 include Agammaglobulinemia 8, Autosomal Dominant and Agammaglobulinemia, Non-Bruton Type. Among its related pathways are Notch-mediated HES/HEY network and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is TCF12.

UniProtKB/Swiss-Prot Summary for TCF3 Gene

  • Transcriptional regulator involved in the initiation of neuronal differentiation and mesenchymal to epithelial transition. Heterodimers between TCF3 and tissue-specific basic helix-loop-helix (bHLH) proteins play major roles in determining tissue-specific cell fate during embryogenesis, like muscle or early B-cell differentiation. Together with TCF15, required for the mesenchymal to epithelial transition. Dimers bind DNA on E-box motifs: 5'-CANNTG-3' (By similarity). Binds to the kappa-E2 site in the kappa immunoglobulin gene enhancer (PubMed:2493990). Binds to IEB1 and IEB2, which are short DNA sequences in the insulin gene transcription control region (By similarity).

Gene Wiki entry for TCF3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TCF3 Gene

Genomics for TCF3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TCF3 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 TCF3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TCF3

Top Transcription factor binding sites by QIAGEN in the TCF3 gene promoter:
  • AML1a
  • STAT3

Genomic Locations for TCF3 Gene

Latest Assembly
chr19:1,609,290-1,652,615
(GRCh38/hg38)
Size:
43,326 bases
Orientation:
Minus strand

Previous Assembly
chr19:1,609,291-1,652,614
(GRCh37/hg19 by Entrez Gene)
Size:
43,324 bases
Orientation:
Minus strand

chr19:1,609,291-1,652,604
(GRCh37/hg19 by Ensembl)
Size:
43,314 bases
Orientation:
Minus strand

Genomic View for TCF3 Gene

Genes around TCF3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TCF3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TCF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCF3 Gene

Proteins for TCF3 Gene

  • Protein details for TCF3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15923-TFE2_HUMAN
    Recommended name:
    Transcription factor E2-alpha
    Protein Accession:
    P15923
    Secondary Accessions:
    • P15883
    • Q14208
    • Q14635
    • Q14636
    • Q2TB39
    • Q2TB40
    • Q9UPI9

    Protein attributes for TCF3 Gene

    Size:
    654 amino acids
    Molecular mass:
    67600 Da
    Quaternary structure:
    • Homodimer (PubMed:2112746, PubMed:14752053). Heterodimer; efficient DNA binding requires dimerization with another bHLH protein (By similarity). Forms a heterodimer with ASH1, TWIST1 and TWIST2 (By similarity). Forms a heterodimer with MYOG; heterodimerization enhances MYOG DNA-binding and transcriptional activities (By similarity). Forms a heterodimer with NEUROD1; the heterodimer is inhibited in presence of ID2, but not NR0B2, to E-box element (PubMed:14752053). Forms a heterodimer with TCF15; the heterodimer binds E-box element (By similarity). Forms a heterodimer with ATOH8; repress transcription of TCF3 and TCF3/NEUROG3 dimer-induced transactivation of E box-dependent promoters (By similarity). Component of a nuclear TAL-1 complex composed at least of CBFA2T3, LDB1, TAL1 and TCF3 (By similarity). Interacts with NEUROD2, PTF1A and TGFB1I1 (By similarity). Interacts with EP300 and UBE2I (PubMed:9409784, PubMed:14752053). Interacts with BHLHA9 (PubMed:25466284).
    • [Isoform E12]: Interacts with RALGAPA1 and FIGLA.
    SequenceCaution:
    • Sequence=AAA52331.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform E47]: The bHLH domain encompassing amino acids 546 to 599 is sufficient to mediate DNA-binding and homodimerization. Combined mutagenesis of Phe-566 and Leu-569 to Asp-566 and Glu-569, mutagenesis of Lys-585 to Ala-585 or combined mutagenesis of Ile-588 and Leu-589 to Asp-588 and Glu-589 prevents DNA-binding and homodimerization. Mutagenesis of Arg-548 to Lys-548, combined mutagenesis of Arg-547 and Arg-548 to Gly-547 and Gly-548, mutagenesis of Arg-556 to Lys-556, mutagenesis of Arg-558 to Lys-558, or combined mutagenesis of Arg-556 and Arg-558 to Gly-556 and Gly-558, alter DNA-binding but not dimerization.

    Three dimensional structures from OCA and Proteopedia for TCF3 Gene

    Alternative splice isoforms for TCF3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TCF3 Gene

Post-translational modifications for TCF3 Gene

Antibodies for research

No data available for DME Specific Peptides for TCF3 Gene

Domains & Families for TCF3 Gene

Gene Families for TCF3 Gene

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

Protein Domains for TCF3 Gene

InterPro:
Blocks:
  • Basic helix-loop-helix dimerization domain bHLH

Suggested Antigen Peptide Sequences for TCF3 Gene

GenScript: Design optimal peptide antigens:
  • TCF3 protein (Q6PJU3_HUMAN)
  • Transcription factor ITF-1 (TFE2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P15923

UniProtKB/Swiss-Prot:

TFE2_HUMAN :
  • the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
Domain:
  • the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
genes like me logo Genes that share domains with TCF3: view

Function for TCF3 Gene

Molecular function for TCF3 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional regulator involved in the initiation of neuronal differentiation and mesenchymal to epithelial transition. Heterodimers between TCF3 and tissue-specific basic helix-loop-helix (bHLH) proteins play major roles in determining tissue-specific cell fate during embryogenesis, like muscle or early B-cell differentiation. Together with TCF15, required for the mesenchymal to epithelial transition. Dimers bind DNA on E-box motifs: 5'-CANNTG-3' (By similarity). Binds to the kappa-E2 site in the kappa immunoglobulin gene enhancer (PubMed:2493990). Binds to IEB1 and IEB2, which are short DNA sequences in the insulin gene transcription control region (By similarity).
GENATLAS Biochemistry:
transcription factor 3,heterodimerizing with all myogenic bHLH vproteins and binding DNA cooperatively with PBXs/MEISs/PKNOX1

Phenotypes From GWAS Catalog for TCF3 Gene

Gene Ontology (GO) - Molecular Function for TCF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA --
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 14576336
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0000987 proximal promoter sequence-specific DNA binding IC 21828274
GO:0001102 RNA polymerase II activating transcription factor binding IPI 10652346
genes like me logo Genes that share ontologies with TCF3: view
genes like me logo Genes that share phenotypes with TCF3: view

Human Phenotype Ontology for TCF3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TCF3 Gene

MGI Knock Outs for TCF3:

Transcription Factor Targets for TCF3 Gene

Selected GeneGlobe predicted Target genes for TCF3
Targeted motifs for TCF3 Gene
HOMER Transcription Factor Regulatory Elements motif TCF3
  • Consensus sequence: ANACAGCTGC Submotif: canonical Cell Type: proBcell GEO ID: GSE21978

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TCF3

Clone products for research

  • Addgene plasmids for TCF3

No data available for Enzyme Numbers (IUBMB) for TCF3 Gene

Localization for TCF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TCF3 Gene

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 TCF3 gene
Compartment Confidence
nucleus 5
plasma membrane 3
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TCF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA,ISA --
GO:0000791 euchromatin IDA 10652346
GO:0005634 nucleus NAS 2493990
GO:0005654 nucleoplasm IDA,TAS --
GO:0005667 transcription factor complex IDA 10775504
genes like me logo Genes that share ontologies with TCF3: view

Pathways & Interactions for TCF3 Gene

PathCards logo

SuperPathways for TCF3 Gene

SuperPathway Contained pathways
1 ERK Signaling
.58
.51
.49
2 Human Embryonic Stem Cell Pluripotency
.50
.50
3 Myogenesis
1.00
4 NF-kappaB Signaling
5 Human T-cell leukemia virus 1 infection
genes like me logo Genes that share pathways with TCF3: view

Pathways by source for TCF3 Gene

10 Qiagen pathways for TCF3 Gene
  • Colorectal Cancer Metastasis
  • Epithelial Adherens Junctions
  • Factors Promoting Cardiogenesis in Vertebrates
  • Glioblastoma Multiforme
  • Human Embryonic Stem Cell Pluripotency
1 Cell Signaling Technology pathway for TCF3 Gene

SIGNOR curated interactions for TCF3 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TCF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 14576336
GO:0002326 B cell lineage commitment NAS 12435739
GO:0006355 regulation of transcription, DNA-templated NAS 2493990
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with TCF3: view

Drugs & Compounds for TCF3 Gene

No Compound Related Data Available

Transcripts for TCF3 Gene

mRNA/cDNA for TCF3 Gene

4 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TCF3

Clone products for research

  • Addgene plasmids for TCF3

Alternative Splicing Database (ASD) splice patterns (SP) for TCF3 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18a · 18b · 18c · 18d ·
SP1: -
SP2:
SP3:
SP4: - - - -
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

ExUns: 18e · 18f ^ 19a · 19b ^ 20a · 20b · 20c · 20d ^ 21a · 21b · 21c · 21d · 21e · 21f · 21g ^ 22a · 22b · 22c ^ 23 ^ 24a · 24b · 24c
SP1: - - - -
SP2: - - - - - - - - -
SP3: - - - -
SP4:
SP5:
SP6:
SP7:
SP8: - - - - - - -
SP9: -
SP10: - - -
SP11: - - - - - - - - - -
SP12: - - - - - - - - - - -
SP13: - - - - - -
SP14: - - - - - -
SP15: - - - - - - - - -
SP16: -
SP17: - -
SP18: - - - - -
SP19: - - -
SP20: - - - - - - -
SP21:

Relevant External Links for TCF3 Gene

GeneLoc Exon Structure for
TCF3

Expression for TCF3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TCF3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TCF3 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TCF3 Gene



Protein tissue co-expression partners for TCF3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TCF3

SOURCE GeneReport for Unigene cluster for TCF3 Gene:

Hs.371282

Evidence on tissue expression from TISSUES for TCF3 Gene

  • Nervous system(3.7)
  • Lung(3.5)
  • Intestine(3.2)
  • Bone marrow(3.2)
  • Lymph node(3)
  • Spleen(3)
  • Blood(2.8)
  • Skin(2.7)
  • Kidney(2.5)
  • Muscle(2.4)
  • Liver(2.3)
  • Heart(2.3)
  • Stomach(2.3)
  • Eye(2.2)
  • Pancreas(2.1)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TCF3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • outer ear
  • sinus
  • skull
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
Pelvis:
  • pelvis
  • rectum
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
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with TCF3: view

Primer products for research

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TCF3 Gene

Orthologs for TCF3 Gene

This gene was present in the common ancestor of animals.

Orthologs for TCF3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TCF3 29 30
  • 98.64 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TCF3 29 30
  • 84.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TCF3 29 30
  • 83.92 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tcf3 29 16 30
  • 79.9 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tcf3 29
  • 79.19 (n)
Oppossum
(Monodelphis domestica)
Mammalia TCF3 30
  • 69 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TCF3 30
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TCF3 29 30
  • 71.34 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TCF3 30
  • 54 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tcf3 29
  • 61.9 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC52608 29
Zebrafish
(Danio rerio)
Actinopterygii tcf3b 29 30
  • 61.29 (n)
OneToMany
tcf3a 30
  • 49 (a)
OneToMany
e12 29
Fruit Fly
(Drosophila melanogaster)
Insecta da 30 31
  • 23 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea hlh-2 30
  • 23 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 23 (a)
OneToMany
Species where no ortholog for TCF3 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)
  • 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 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)

Evolution for TCF3 Gene

ENSEMBL:
Gene Tree for TCF3 (if available)
TreeFam:
Gene Tree for TCF3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TCF3: view image
Alliance of Genome Resources:
Additional Orthologs for TCF3

Paralogs for TCF3 Gene

Paralogs for TCF3 Gene

(3) SIMAP similar genes for TCF3 Gene using alignment to 15 proteins:

  • TFE2_HUMAN
  • K7EJN4_HUMAN
  • K7EK65_HUMAN
  • K7EKB9_HUMAN
  • K7ELF3_HUMAN
  • K7EMM4_HUMAN
  • K7ENH8_HUMAN
  • K7ENI0_HUMAN
  • K7EPH6_HUMAN
  • K7EPS2_HUMAN
  • K7ERZ7_HUMAN
  • L0R8G9_HUMAN
  • Q2TB39_HUMAN
  • Q6PJU3_HUMAN
  • U5LXR9_HUMAN

Pseudogenes.org Pseudogenes for TCF3 Gene

genes like me logo Genes that share paralogs with TCF3: view

Variants for TCF3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TCF3 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
1013644 Uncertain Significance: not provided 1,615,387(-) G/A
NM_003200.5(TCF3):c.1720C>T (p.Arg574Cys)
MISSENSE_VARIANT,INTRON
1043124 Uncertain Significance: not provided 1,615,526(-) G/A
NM_003200.5(TCF3):c.1587-6C>T
INTRON
1045821 Uncertain Significance: not provided 1,611,727(-) T/G
NM_003200.5(TCF3):c.1945A>C (p.Asn649His)
MISSENSE
1047252 Uncertain Significance: not provided 1,622,139(-) G/A
NM_003200.5(TCF3):c.737C>T (p.Pro246Leu)
MISSENSE
806006 Uncertain Significance: not provided 1,615,489(-) G/C
NM_003200.5(TCF