Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.F158L

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
6 papers
NM_000474.4
p.F158L
c.474C>G
Surrounding Variants
6 papers
NM_000474.4
p.F158L
c.474C>A
7 papers
NM_000474.4
p.L159F
c.475C>T
1 paper
NM_000474.4
p.Y155_D157insFs
c.465_471dup7
6 papers
NM_000474.4
p.F158L
c.472T>C
2 papers
NM_000474.4
p.L159H
c.476T>A
1 paper
NM_000474.4
p.Y155_D157del0
c.464_469del6
1 paper
NM_000474.4
p.Y155_D157delFs
c.465_471del7
2 papers
NM_000474.4
p.D157V
c.470A>T
2 papers
NM_000474.4
p.D157A
c.470A>C
1 paper
NM_000474.4
p.Y155_D157delFs
c.465_469del5
1 paper
NM_000474.4
p.Y160C
c.479A>G
1 paper
NM_000474.4
p.L159_Y160insFs
c.477_478dupCT
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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."