Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.S144R

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
11 papers
NM_000474.4
p.S144R
c.430A>C
Surrounding Variants
2 papers
NM_000474.4
p.L143delFs
c.428delA
1 paper
NM_000474.4
p.R132_K142del11
c.394_425del33
12 papers
NM_000474.4
p.S144R
c.432C>G
11 papers
NM_000474.4
p.S144R
c.432C>A
14 papers
NM_000474.4
p.K145E
c.433A>G
1 paper
NM_000474.4
p.I135_K142ins2
c.405_425dup21
1 paper
NM_000474.4
p.K145R
c.434A>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.D141_K142insFs
c.423_424ins25
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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."