Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.S95ins0

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
2 papers
NM_000474.4
p.S95ins0
c.283_285dupAGC
Surrounding Variants
1 paper
NM_000474.4
p.G96V
c.287G>T
1 paper
NM_000474.4
p.S95insFs
c.284_285insCT
2 papers
NM_000474.4
p.S95G
c.283A>G
4 papers
NM_000474.4
p.S95Fs
c.283delinsCGFs
1 paper
NM_000474.4
p.G97D
c.290G>A
1 paper
NM_000474.4
p.G91_S94insFs
c.272_281dup10
2 papers
NM_000474.4
p.S94I
c.281G>T
1 paper
NM_000474.4
p.S94N
c.281G>A
1 paper
NM_000474.4
p.G97_G98ins5
c.291_292ins15
1 paper
NM_000474.4
p.G97delFs
c.291delG
1 paper
NM_000474.4
p.S94fs
c.280_281fs
1 paper
NM_000474.4
p.S94G
c.280A>G
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