Varaico: Literature-Extracted Genetic Variants

Gene:TCF3
Variant:p.R273H

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
6 papers
NM_003200.5
p.R273H
c.818G>A
Surrounding Variants
1 paper
NM_003200.5
p.R273P
c.818G>C
2 papers
NM_003200.5
p.R273C
c.817C>T
1 paper
NM_003200.5
p.M274K
c.821T>A
1 paper
NM_003200.5
p.E272A
c.815A>C
1 paper
NM_003200.5
p.M274I
c.822G>T
1 paper
NM_003200.5
p.M274I
c.822G>C
1 paper
NM_003200.5
p.M274I
c.822G>A
1 paper
NM_003200.5
p.E272K
c.814G>A
1 paper
NM_003200.5
p.Q270P
c.809A>C
5 papers
NM_003200.5
p.Q270*
c.808C>T
3 papers
NM_003200.5
p.H269Q
c.807C>G
3 papers
NM_003200.5
p.H269Q
c.807C>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."