Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.S78_G84delFs

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.S78_G84delFs
c.232_250del19
Surrounding Variants
1 paper
NM_000474.4
p.G85A
c.254G>C
1 paper
NM_000474.4
p.A79_G84del6
c.235_251del18
4 papers
NM_000474.4
p.G83S
c.247G>A
2 papers
NM_000474.4
p.G82delFs
c.246delG
1 paper
NM_000474.4
p.G86S
c.256G>A
1 paper
NM_000474.4
p.G82_G83ins1
c.246_247insGGC
1 paper
NM_000474.4
p.A87ins1
c.259_260ins3
2 papers
NM_000474.4
p.G86_A87ins0
c.257_259dupGCG
1 paper
NM_000474.4
p.G86_A87del1
c.257_259delCGC
1 paper
NM_000474.4
p.C81G
c.241T>G
1 paper
NM_000474.4
p.G88C
c.262G>T
1 paper
NM_000474.4
p.G88fs
c.262_263fs
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."