Varaico: Literature-Extracted Genetic Variants

Gene:TCF4
Variant:p.G413fs

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_001083962.2
p.G413fs
c.1237_1238fs
Surrounding Variants
1 paper
NM_001083962.2
p.G413R
c.1237G>C
1 paper
NM_001083962.2
p.G413delFs
c.1238delC
2 papers
NM_001083962.2
p.G414fs
c.1240_1241fs
1 paper
NM_001083962.2
p.P412S
c.1234C>T
1 paper
NM_001083962.2
p.G414fs
c.1240_1241fs
2 papers
NM_001083962.2
p.G414delFs
c.1241delC
1 paper
NM_001083962.2
p.M411delFs
c.1231delT
1 paper
NM_001083962.2
p.H415fs
c.1243_1244fs
1 paper
NM_001083962.2
p.M411fs
c.1231_1232fs
1 paper
NM_001083962.2
p.M411_H415delFs
c.1233_1243del11
1 paper
NM_001083962.2
p.H415delFs
c.1244delT
1 paper
NM_001243226.3
p.G518W
c.1552G>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."