Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.A130A

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.A130A
c.390G>C
Surrounding Variants
1 paper
NM_000474.4
p.A130E
c.389C>A
7 papers
NM_000474.4
p.L131P
c.392T>C
1 paper
NM_000474.4
p.F128_A129delFs
c.384_385delCG
1 paper
NM_000474.4
p.R132W
c.394C>T
2 papers
NM_000474.4
p.R132L
c.395G>T
1 paper
NM_000474.4
p.A129S
c.385G>T
4 papers
NM_000474.4
p.A129insFs
c.385_386insC
4 papers
NM_000474.4
p.R132P
c.395G>C
2 papers
NM_000474.4
p.A129P
c.385G>C
1 paper
NM_000474.4
p.R132Q
c.395G>A
1 paper
NM_000474.4
p.F128Y
c.383T>A
1 paper
NM_000474.4
p.A127_F128delFs
c.381_382delAC
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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."