Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.T137P

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
3 papers
NM_000474.4
p.T137P
c.409A>C
Surrounding Variants
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
2 papers
NM_000474.4
p.P136insFs
c.408dupC
1 paper
NM_000474.4
p.P136delFs
c.408delG
1 paper
NM_000474.4
p.A130_P136del0
c.388_408del21
1 paper
NM_000474.4
p.T137insFs
c.409dupA
1 paper
NM_000474.4
p.T137T
c.411G>A
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
4 papers
NM_000474.4
p.P136S
c.406C>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."