Varaico: Literature-Extracted Genetic Variants

Gene:TCF4
Variant:p.L390*

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.L390*
c.1169T>A
Surrounding Variants
2 papers
NM_001083962.2
p.L390*
c.1169T>G
1 paper
NM_001083962.2
p.L390delFs
c.1169delA
1 paper
NM_001083962.2
p.R389insFs
c.1166dupG
1 paper
NM_001083962.2
p.E391*
c.1171G>T
6 papers
NM_001083962.2
p.R389C
c.1165C>T
1 paper
NM_001083962.2
p.R392*
c.1174A>T
1 paper
NM_001083962.2
p.L390_R392Fs
c.1169_1175delinsAAAFs
1 paper
NM_001083962.2
p.L393L
c.1177C>T
1 paper
NM_001083962.2
p.D394N
c.1180G>A
1 paper
NM_001083962.2
p.Q383_S384del2
c.1147_1151del6
18 papers
NM_001083962.2
p.R385*
c.1153C>T
NM_001243226.3
p.R487*
c.1459C>T
2 papers
NM_001083962.2
p.S384delFs
c.1151delC
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