Varaico: Literature-Extracted Genetic Variants

Gene:TCF4
Variant:p.P177L

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.P177L
c.530C>T
Surrounding Variants
1 paper
NM_001083962.2
p.V176F
c.526G>T
1 paper
NM_001083962.2
p.P178delFs
c.532_533delGG
1 paper
NM_001083962.2
p.G179A
c.536G>C
1 paper
NM_001083962.2
p.G179insFs
c.535dupG
12 papers
NM_001083962.2
p.R174*
c.520C>T
1 paper
NM_001083962.2
p.K172_V173delFs
c.516_519del4
1 paper
NM_001243227.2
p.P157S
c.469C>T
9 papers
NM_001083962.2
p.K172_V173delFs
c.514_517del4
1 paper
NM_001083962.2
p.L180_P181insFs
c.540_543dup4
1 paper
NM_001083962.2
p.K172fs
c.514_515fs
7 papers
NM_001083962.2
p.K172fs
c.514_515fs
1 paper
NM_001083962.2
p.S183A
c.547T>G
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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."