Varaico: Literature-Extracted Genetic Variants

Gene:TCF3

TCF3

948 papers

RefSeq Summary

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 he...

Pfam Domains

HLHaa 550–603UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

transcription factor 3

HGNC Alias Symbols

E2A; ITF1; MGC129647; MGC129648; bHLHb21; VDIR; E47; p75

Papers
RefSeq ID
Protein change
DNA change
1–12 of 644 variants
12 papers
NM_003200.5
p.G431S
c.1291G>A
8 papers
NM_003200.5
p.K101R
c.302A>G
7 papers
NM_003200.5
p.G103D
c.308G>A
7 papers
NM_003200.5
p.K522Q
c.1564A>C
6 papers
NM_003200.5
p.R273H
c.818G>A
6 papers
NM_003200.5
p.G385D
c.1154G>A
5 papers
NM_003200.5
p.A8S
c.22G>T
5 papers
NM_003200.5
p.Q270*
c.808C>T
5 papers
NM_003200.5
p.G362D
c.1085G>A
5 papers
NM_003200.5
p.G431delins
c.1291_1293delinsAGT
5 papers
NM_003200.5
p.A492V
c.1475C>T
4 papers
NM_003200.5
p.G11D
c.32G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."