Varaico: Literature-Extracted Genetic Variants

Gene:TCF4
Variant:p.M450delFs

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.M450delFs
c.1349delA
Surrounding Variants
2 papers
NM_001083962.2
p.M450R
c.1349T>G
1 paper
NM_001083962.2
p.M450V
c.1348A>G
1 paper
NM_001083962.2
p.L449fs
c.1345_1346fs
1 paper
NM_001083962.2
p.H447_S448delFs
c.1341_1344del4
4 papers
NM_001083962.2
p.S448*
c.1343C>G
4 papers
NM_001083962.2
p.S448*
c.1343C>A
1 paper
NM_001083962.2
p.S448A
c.1342T>G
1 paper
NM_001243226.3
p.S550fs
c.1648_1649fs
1 paper
NM_001083962.2
p.H447D
c.1339C>G
1 paper
NM_001083962.2
p.R446delFs
c.1337delC
1 paper
NM_001083962.2
p.A444P
c.1330G>C
3 papers
NM_001083962.2
p.S443*
c.1328C>G
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