Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.D25N

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
2 papers
NM_000474.4
p.D25N
c.73G>A
Surrounding Variants
1 paper
NM_000474.4
p.P24L
c.71C>T
1 paper
NM_000474.4
p.E23_P24del1
c.68_70delGCT
2 papers
NM_000474.4
p.P24A
c.70C>G
1 paper
NM_000474.4
p.E23G
c.68A>G
1 paper
NM_000474.4
p.E23K
c.67G>A
2 papers
NM_000474.4
p.Q27*
c.79C>T
1 paper
NM_000474.4
p.D25_Q27del0
c.74_79del6
9 papers
NM_000474.4
p.Q28*
c.82C>T
1 paper
NM_000474.4
p.Q28K
c.82C>A
2 papers
NM_000474.4
p.Q27_Q28delins
c.81_82delinsTT
1 paper
NM_000474.4
p.Q28insFs
c.82dupC
2 papers
NM_000474.4
p.E21*
c.61G>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."