Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.L168Q

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.L168Q
c.503T>A
Surrounding Variants
1 paper
NM_000474.4
p.S170F
c.509C>T
1 paper
NM_000474.4
p.S170insFs
c.510dupC
1 paper
NM_000474.4
p.K171insFs
c.512_513insGC
1 paper
NM_000474.4
p.K171fs
c.511_512fs
1 paper
NM_000474.4
p.Q164H
c.492G>C
1 paper
NM_000474.4
p.M172T
c.515T>C
5 papers
NM_000474.4
p.Q164*
c.490C>T
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
4 papers
NM_000474.4
p.L163F
c.487C>T
1 paper
NM_000474.4
p.V162V
c.486C>T
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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."