Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.G35R

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.G35R
c.103G>C
Surrounding Variants
1 paper
NM_000474.4
p.G35R
c.103G>A
4 papers
NM_000474.4
p.G36*
c.106G>T
1 paper
NM_000474.4
p.P30_K33delFs
c.90_99del10
1 paper
NM_000474.4
p.G36A
c.107G>C
1 paper
NM_000474.4
p.G36insFs
c.106dupG
1 paper
NM_000474.4
p.S31_G32del2
c.91_95del6
1 paper
NM_000474.4
p.R37C
c.109C>T
2 papers
NM_000474.4
p.G36delFs
c.108delT
2 papers
NM_000474.4
p.K33*
c.97A>T
5 papers
NM_000474.4
p.G32S
c.94G>A
1 paper
NM_000474.4
p.S31insFs
c.92_93insG
2 papers
NM_000474.4
p.K38R
c.113A>G
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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."