Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.G61*

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
5 papers
NM_000474.4
p.G61*
c.181G>T
Surrounding Variants
1 paper
NM_000474.4
p.V60V
c.180C>T
1 paper
NM_000474.4
p.G54_V60del0
c.162_179del18
2 papers
NM_000474.4
p.V60A
c.179T>C
1 paper
NM_000474.4
p.V60_G61insAGC
c.178_182ins9
1 paper
NM_000474.4
p.V60I
c.178G>A
3 papers
NM_000474.4
p.G59delFs
c.176delC
1 paper
NM_000474.4
p.G59D
c.176G>A
1 paper
NM_000474.4
p.G62G
c.186C>A
1 paper
NM_000474.4
p.G57A
c.170G>C
8 papers
NM_000474.4
p.E65*
c.193G>T
1 paper
NM_000474.4
p.G57S
c.169G>A
1 paper
NM_000474.4
p.A56T
c.166G>A
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