Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.A179G

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.A179G
c.536C>G
Surrounding Variants
1 paper
NM_000474.4
p.A179delFs
c.535delC
1 paper
NM_000474.4
p.Y177delFs
c.531delA
7 papers
NM_000474.4
p.E181*
c.541G>T
1 paper
NM_000474.4
p.R182W
c.544C>T
4 papers
NM_000474.4
p.S176R
c.528C>G
3 papers
NM_000474.4
p.S176R
c.528C>A
1 paper
NM_000474.4
p.R182Q
c.545G>A
3 papers
NM_000474.4
p.S176R
c.526A>C
2 papers
NM_000474.4
p.L183F
c.547C>T
1 paper
NM_000474.4
p.L183R
c.548T>G
1 paper
NM_000474.4
p.C175Y
c.524G>A
2 papers
NM_000474.4
p.A186S
c.556G>T
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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."