Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.S93G

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.S93G
c.277A>G
Surrounding Variants
1 paper
NM_000474.4
p.S93C
c.277A>T
1 paper
NM_000474.4
p.G92insFs
c.276dupC
3 papers
NM_000474.4
p.G86_G92ins2
c.256_276dup21
2 papers
NM_000474.4
p.G92del1
c.274_275delGCC
8 papers
NM_000474.4
p.A87_G92del0
c.259_276del18
1 paper
NM_000474.4
p.G84_G92del0
c.250_276del27
1 paper
NM_000474.4
p.C81_S93insFs
c.243_277dup35
1 paper
NM_000474.4
p.G92G
c.276C>T
1 paper
NM_000474.4
p.G92insFs
c.274dupG
1 paper
NM_000474.4
p.G92_S93insFs
c.276_277ins10
1 paper
NM_000474.4
p.G92_S93ins7
c.276_277ins21
1 paper
NM_000474.4
p.G88_G92delFs
c.263_275del13
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."