Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.G88Fs

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
1 paper
NM_000474.4
p.G88Fs
c.263_264delinsTFs
Surrounding Variants
1 paper
NM_000474.4
p.G88insFs
c.263dupG
1 paper
NM_000474.4
p.G88fs
c.262_263fs
3 papers
NM_000474.4
p.G88delFs
c.263delC
1 paper
NM_000474.4
p.A87ins1
c.259_260insGCG
1 paper
NM_000474.4
p.G88insFs
c.264dupC
1 paper
NM_000474.4
p.G88A
c.263G>C
1 paper
NM_000474.4
p.G88D
c.263G>A
1 paper
NM_000474.4
p.G88C
c.262G>T
1 paper
NM_000474.4
p.G88fs
c.262_263fs
2 papers
NM_000474.4
p.G86_A87ins0
c.257_259dupGCG
1 paper
NM_000474.4
p.G86_A87del1
c.257_259delCGC
1 paper
NM_000474.4
p.A87ins1
c.259_260ins3
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