Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.R116W

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
6 papers
NM_000474.4
p.R116W
c.346C>T
Surrounding Variants
2 papers
NM_000474.4
p.R116G
c.346C>G
1 paper
NM_000474.4
p.R116P
c.347G>C
1 paper
NM_000474.4
p.V115V
c.345G>A
1 paper
NM_000474.4
p.V115E
c.344T>A
1 paper
NM_000474.4
p.E117*
c.349G>T
1 paper
NM_000474.4
p.Q109_N114delFs
c.326_342del17
1 paper
NM_000474.4
p.N114insFs
c.340dupA
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.E117D
c.351G>T
2 papers
NM_000474.4
p.E117D
c.351G>C
2 papers
NM_000474.4
p.N114S
c.341A>G
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