Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.I135M

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.I135M
c.405C>G
Surrounding Variants
1 paper
NM_000474.4
p.I135S
c.404T>G
4 papers
NM_000474.4
p.P136S
c.406C>T
2 papers
NM_000474.4
p.P136A
c.406C>G
3 papers
NM_000474.4
p.A129_I135ins2
c.385_405dup21
4 papers
NM_000474.4
p.P136L
c.407C>T
1 paper
NM_000474.4
p.P136R
c.407C>G
2 papers
NM_000474.4
p.P136H
c.407C>A
5 papers
NM_000474.4
p.I134M
c.402C>G
1 paper
NM_000474.4
p.T137fs
c.409_410fs
1 paper
NM_000474.4
p.T137S
c.409A>T
1 paper
NM_000474.4
p.T137A
c.409A>G
3 papers
NM_000474.4
p.T137P
c.409A>C
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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."