Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.G54*

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.G54*
c.160G>T
Surrounding Variants
1 paper
NM_000474.4
p.G49_G53insFs
c.147_157dup11
1 paper
NM_000474.4
p.A50_G53insFs
c.148_157dup10
1 paper
NM_000474.4
p.P52delFs
c.156delG
1 paper
NM_000474.4
p.P52L
c.155C>T
1 paper
NM_000474.4
p.A56T
c.166G>A
2 papers
NM_000474.4
p.G51delFs
c.153delC
1 paper
NM_000474.4
p.G51fs
c.151_152fs
1 paper
NM_000474.4
p.G47_G51del0
c.141_152del12
1 paper
NM_000474.4
p.G51V
c.152G>T
1 paper
NM_000474.4
p.G57S
c.169G>A
1 paper
NM_000474.4
p.G57A
c.170G>C
2 papers
NM_000474.4
p.A50delFs
c.149delG
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