Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.A46insFs

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.A46insFs
c.136dupG
Surrounding Variants
2 papers
NM_000474.4
p.R43_A46delFs
c.127_137del11
1 paper
NM_000474.4
p.G47insFs
c.139dupG
1 paper
NM_000474.4
p.R44fs
c.130_131fs
1 paper
NM_000474.4
p.R44P
c.131G>C
4 papers
NM_000474.4
p.R43_A46delFs
c.128_138del11
1 paper
NM_000474.4
p.G49S
c.145G>A
2 papers
NM_000474.4
p.A50delFs
c.149delG
1 paper
NM_000474.4
p.S42C
c.124A>T
1 paper
NM_000474.4
p.S41R
c.123C>G
1 paper
NM_000474.4
p.S41R
c.123C>A
1 paper
NM_000474.4
p.G51V
c.152G>T
1 paper
NM_000474.4
p.G51fs
c.151_152fs
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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."