Varaico: Literature-Extracted Genetic Variants

Gene:TCF4
Variant:p.I397fs

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.I397fs
c.1189_1190fs
Surrounding Variants
1 paper
NM_001083962.2
p.H398Y
c.1192C>T
1 paper
NM_001083962.2
p.V399I
c.1195G>A
1 paper
NM_001083962.2
p.I397_H398delFs
c.1191_1194del4
1 paper
NM_001083962.2
p.D394N
c.1180G>A
1 paper
NM_001083962.2
p.R401W
c.1201C>T
1 paper
NM_001083962.2
p.L393L
c.1177C>T
1 paper
NM_001083962.2
p.L390_R392Fs
c.1169_1175delinsAAAFs
1 paper
NM_001083962.2
p.R392*
c.1174A>T
1 paper
NM_001083962.2
p.E391*
c.1171G>T
1 paper
NM_001083962.2
p.L390delFs
c.1169delA
2 papers
NM_001083962.2
p.L390*
c.1169T>G
2 papers
NM_001083962.2
p.L390*
c.1169T>A
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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."