Varaico: Literature-Extracted Genetic Variants

Gene:TCF4
Variant:p.H162Q

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
2 papers
NM_001083962.2
p.H162Q
c.486C>G
Surrounding Variants
1 paper
NM_001083962.2
p.L161P
c.482T>C
1 paper
NM_001083962.2
p.A165T
c.493G>A
1 paper
NM_001083962.2
p.R158S
c.474G>C
2 papers
NM_001083962.2
p.E167*
c.499G>T
2 papers
NM_001083962.2
p.E167Splc
c.499+1G>A
10 papers
NM_001083962.2
p.R157*
c.469C>T
NM_001369585.1
p.R132*
c.394C>T
1 paper
NM_001083962.2
p.P156insFs
c.467_468insT
1 paper
NM_001083962.2
p.P156S
c.466C>T
4 papers
NM_001083962.2
p.P156T
c.466C>A
1 paper
NM_001083962.2
p.S153N
c.458G>A
1 paper
NM_001083962.2
p.S153C
c.457A>T
1 paper
NM_001083962.2
p.Y151del1
c.451_453delATA
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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."