Varaico: Literature-Extracted Genetic Variants

Gene:TCF4
Variant:p.P247R

TCF4

565 papers

RefSeq Summary

This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in ...

Pfam Domains

HLHaa 540–593UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

transcription factor 4

HGNC Alias Symbols

SEF2-1B; ITF2; bHLHb19; E2-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001243234.2
p.P247R
c.740C>G
Surrounding Variants
1 paper
NM_001083962.2
p.P407_S408insFs
c.1221_1222insA
1 paper
NM_001083962.2
p.S408F
c.1223C>T
1 paper
NM_001083962.2
p.T409T
c.1227A>T
1 paper
NM_001083962.2
p.M411fs
c.1231_1232fs
1 paper
NM_001083962.2
p.M411delFs
c.1231delT
1 paper
NM_001083962.2
p.P412S
c.1234C>T
1 paper
NM_001083962.2
p.G413fs
c.1237_1238fs
1 paper
NM_001083962.2
p.G413R
c.1237G>C
1 paper
NM_001083962.2
p.G413delFs
c.1238delC
1 paper
NM_001083962.2
p.R401W
c.1201C>T
2 papers
NM_001083962.2
p.G414fs
c.1240_1241fs
1 paper
NM_001083962.2
p.G414fs
c.1240_1241fs
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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."