Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.A129insFs

TWIST1

311 papers

RefSeq Summary

This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DN...

Pfam Domains

HLHaa 109–160UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

twist family bHLH transcription factor 1

HGNC Previous Symbols

ACS3; BPES3; CRS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_000474.4
p.A129insFs
c.385_386insC
Surrounding Variants
1 paper
NM_000474.4
p.A129S
c.385G>T
2 papers
NM_000474.4
p.A129P
c.385G>C
1 paper
NM_000474.4
p.F128Y
c.383T>A
1 paper
NM_000474.4
p.A127_F128delFs
c.381_382delAC
1 paper
NM_000474.4
p.F128_A129delFs
c.384_385delCG
5 papers
NM_000474.4
p.A127ins0
c.379_381dupGCG
1 paper
NM_000474.4
p.F128I
c.382T>A
1 paper
NM_000474.4
p.A130E
c.389C>A
2 papers
NM_000474.4
p.A130A
c.390G>C
4 papers
NM_000474.4
p.A127V
c.380C>T
3 papers
NM_000474.4
p.A127E
c.380C>A
2 papers
NM_000474.4
p.A127P
c.379G>C
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