Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.L124P

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.L124P
c.371T>C
Surrounding Variants
1 paper
NM_000474.4
p.L124R
c.371T>G
6 papers
NM_000474.4
p.L124L
c.372G>C
1 paper
NM_000474.4
p.L124M
c.370C>A
2 papers
NM_000474.4
p.S123S
c.369G>C
8 papers
NM_000474.4
p.S123W
c.368C>G
8 papers
NM_000474.4
p.S123*
c.368C>A
11 papers
NM_000474.4
p.E126*
c.376G>T
1 paper
NM_000474.4
p.E126G
c.377A>G
1 paper
NM_000474.4
p.R116_Q122delFs
c.348_364del17
4 papers
NM_000474.4
p.Q122*
c.364C>T
1 paper
NM_000474.4
p.Q122K
c.364C>A
2 papers
NM_000474.4
p.A127P
c.379G>C
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."