Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.E126*

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
11 papers
NM_000474.4
p.E126*
c.376G>T
Surrounding Variants
1 paper
NM_000474.4
p.E126G
c.377A>G
2 papers
NM_000474.4
p.A127P
c.379G>C
2 papers
NM_000474.4
p.A127T
c.379G>A
1 paper
NM_000474.4
p.E126delFs
c.377_378delCT
6 papers
NM_000474.4
p.L124L
c.372G>C
4 papers
NM_000474.4
p.A127V
c.380C>T
3 papers
NM_000474.4
p.A127E
c.380C>A
1 paper
NM_000474.4
p.L124R
c.371T>G
2 papers
NM_000474.4
p.L124P
c.371T>C
5 papers
NM_000474.4
p.A127ins0
c.379_381dupGCG
1 paper
NM_000474.4
p.F128I
c.382T>A
1 paper
NM_000474.4
p.L124M
c.370C>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."