Varaico: Literature-Extracted Genetic Variants

Gene:TCF4

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
1–12 of 671 variants
20 papers
NM_001083962.2
p.R578H
c.1733G>A
20 papers
NM_001083962.2
p.R580W
c.1738C>T
16 papers
NM_001083962.2
p.R385*
c.1153C>T
16 papers
NM_001083962.2
p.R576Q
c.1727G>A
12 papers
NM_001083962.2
p.R174*
c.520C>T
12 papers
NM_001083962.2
p.R580Q
c.1739G>A
12 papers
NM_001083962.2
p.R582P
c.1745G>C
12 papers
NM_001083962.2
p.A614V
c.1841C>T
9 papers
NM_001083962.2
p.R157*
c.469C>T
9 papers
NM_001083962.2
p.K172_V173delFs
c.514_517del4
9 papers
NM_001083962.2
p.R569W
c.1705C>T
8 papers
NM_001083962.2
p.R578P
c.1733G>C
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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."