Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.Q147fs

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.Q147fs
c.439_440fs
Surrounding Variants
2 papers
NM_000474.4
p.Q147E
c.439C>G
2 papers
NM_000474.4
p.I146insFs
c.438dupT
1 paper
NM_000474.4
p.P139_I146insFs
c.416_437dup22
2 papers
NM_000474.4
p.T148S
c.442A>T
6 papers
NM_000474.4
p.T148A
c.442A>G
7 papers
NM_000474.4
p.K145N
c.435G>T
1 paper
NM_000474.4
p.K145fs
c.433_434fs
3 papers
NM_000474.4
p.K145insFs
c.434dupA
8 papers
NM_000474.4
p.K145N
c.435G>C
1 paper
NM_000474.4
p.T148I
c.443C>T
1 paper
NM_000474.4
p.T148S
c.443C>G
5 papers
NM_000474.4
p.T148N
c.443C>A
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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."