Varaico: Literature-Extracted Genetic Variants

Gene:TCF3
Variant:p.E505K

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
Selected Variant
2 papers
NM_003200.5
p.E505K
c.1513G>A
Surrounding Variants
1 paper
NM_003200.5
p.E503_D504insC
c.1507_1511ins3
2 papers
NM_003200.5
p.K502E
c.1504A>G
1 paper
NM_003200.5
p.T508M
c.1523C>T
2 papers
NM_003200.5
p.R499Q
c.1496G>A
2 papers
NM_003200.5
p.K498R
c.1493A>G
1 paper
NM_003200.5
p.H513Q
c.1539C>G
1 paper
NM_003200.5
p.H513Q
c.1539C>A
2 papers
NM_003200.5
p.E496K
c.1486G>A
3 papers
NM_003200.5
p.S514L
c.1541C>T
3 papers
NM_003200.5
p.S514*
c.1541C>A
1 paper
NM_003200.5
p.A494fs
c.1480_1481fs
1 paper
NM_003200.5
p.A494V
c.1481C>T
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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."