Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.Q122*

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
4 papers
NM_000474.4
p.Q122*
c.364C>T
Surrounding Variants
1 paper
NM_000474.4
p.Q122K
c.364C>A
1 paper
NM_000474.4
p.R116_Q122delFs
c.348_364del17
6 papers
NM_000474.4
p.T121I
c.362C>T
3 papers
NM_000474.4
p.R118_R120delFs
c.353_360del8
8 papers
NM_000474.4
p.S123W
c.368C>G
8 papers
NM_000474.4
p.S123*
c.368C>A
1 paper
NM_000474.4
p.R120R
c.360C>A
6 papers
NM_000474.4
p.R120P
c.359G>C
2 papers
NM_000474.4
p.S123S
c.369G>C
2 papers
NM_000474.4
p.R120C
c.358C>T
1 paper
NM_000474.4
p.L124M
c.370C>A
1 paper
NM_000474.4
p.L124R
c.371T>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."