Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.Q119delFs

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
5 papers
NM_000474.4
p.Q119delFs
c.355delG
Surrounding Variants
8 papers
NM_000474.4
p.Q119P
c.356A>C
2 papers
NM_000474.4
p.R118del1
c.352_353delGCG
1 paper
NM_000474.4
p.Q119delins
c.356_357delinsCC
4 papers
NM_000474.4
p.Q119*
c.355C>T
2 papers
NM_000474.4
p.R120C
c.358C>T
6 papers
NM_000474.4
p.R120P
c.359G>C
1 paper
NM_000474.4
p.R118P
c.353G>C
9 papers
NM_000474.4
p.R118H
c.353G>A
12 papers
NM_000474.4
p.R118C
c.352C>T
2 papers
NM_000474.4
p.R118G
c.352C>G
1 paper
NM_000474.4
p.R120R
c.360C>A
1 paper
NM_000474.4
p.R118S
c.352C>A
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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."