Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.Q164*

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
5 papers
NM_000474.4
p.Q164*
c.490C>T
Surrounding Variants
3 papers
NM_000474.4
p.V162_L163delFs
c.485_488del4
2 papers
NM_000474.4
p.Q161_L163delFs
c.482_488del7
3 papers
NM_000474.4
p.L163delFs
c.487delG
1 paper
NM_000474.4
p.Q164H
c.492G>C
4 papers
NM_000474.4
p.L163F
c.487C>T
1 paper
NM_000474.4
p.V162V
c.486C>T
1 paper
NM_000474.4
p.V162delFs
c.484delC
1 paper
NM_000474.4
p.Q161R
c.482A>G
3 papers
NM_000474.4
p.Q161delFs
c.481delG
6 papers
NM_000474.4
p.Q161*
c.481C>T
1 paper
NM_000474.4
p.Y160Y
c.480C>T
4 papers
NM_000474.4
p.Y160*
c.480C>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."