Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.R110_V111delFs

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
4 papers
NM_000474.4
p.R110_V111delFs
c.329_333del5
Surrounding Variants
1 paper
NM_000474.4
p.V111V
c.333C>T
3 papers
NM_000474.4
p.V111delFs
c.331delC
1 paper
NM_000474.4
p.R110R
c.330G>A
1 paper
NM_000474.4
p.A113delFs
c.337delC
4 papers
NM_000474.4
p.R110Q
c.329G>A
1 paper
NM_000474.4
p.R110W
c.328C>T
3 papers
NM_000474.4
p.N114D
c.340A>G
2 papers
NM_000474.4
p.A113_N114insFs
c.339_340insCC
2 papers
NM_000474.4
p.N114S
c.341A>G
1 paper
NM_000474.4
p.N114insFs
c.340dupA
1 paper
NM_000474.4
p.Q109_N114delFs
c.326_342del17
5 papers
NM_000474.4
p.Q109*
c.325C>T
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."