Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.R118G

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
2 papers
NM_000474.4
p.R118G
c.352C>G
Surrounding Variants
12 papers
NM_000474.4
p.R118C
c.352C>T
1 paper
NM_000474.4
p.R118S
c.352C>A
1 paper
NM_000474.4
p.E117D
c.351G>T
2 papers
NM_000474.4
p.E117D
c.351G>C
1 paper
NM_000474.4
p.R118P
c.353G>C
9 papers
NM_000474.4
p.R118H
c.353G>A
6 papers
NM_000474.4
p.E117V
c.350A>T
5 papers
NM_000474.4
p.E117G
c.350A>G
1 paper
NM_000474.4
p.E117*
c.349G>T
4 papers
NM_000474.4
p.Q119*
c.355C>T
8 papers
NM_000474.4
p.Q119P
c.356A>C
5 papers
NM_000474.4
p.Q119delFs
c.355delG
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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."