Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.R120R

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.R120R
c.360C>A
Surrounding Variants
6 papers
NM_000474.4
p.R120P
c.359G>C
3 papers
NM_000474.4
p.R118_R120delFs
c.353_360del8
6 papers
NM_000474.4
p.T121I
c.362C>T
2 papers
NM_000474.4
p.R120C
c.358C>T
1 paper
NM_000474.4
p.Q119delins
c.356_357delinsCC
4 papers
NM_000474.4
p.Q122*
c.364C>T
1 paper
NM_000474.4
p.Q122K
c.364C>A
8 papers
NM_000474.4
p.Q119P
c.356A>C
5 papers
NM_000474.4
p.Q119delFs
c.355delG
2 papers
NM_000474.4
p.R118del1
c.352_353delGCG
4 papers
NM_000474.4
p.Q119*
c.355C>T
1 paper
NM_000474.4
p.R116_Q122delFs
c.348_364del17
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."