Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.E193insFs

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
1 paper
NM_000474.4
p.E193insFs
c.579dupG
Surrounding Variants
1 paper
NM_000474.4
p.S197fs
c.589_590fs
1 paper
NM_000474.4
p.S197delFs
c.589delA
1 paper
NM_000474.4
p.E193A
c.578A>C
2 papers
NM_000474.4
p.E193*
c.577G>T
1 paper
NM_000474.4
p.E193Q
c.577G>C
3 papers
NM_000474.4
p.R191M
c.572G>T
1 paper
NM_000474.4
p.R191G
c.571A>G
1 paper
NM_000474.4
p.S199insFs
c.596dupC
2 papers
NM_000474.4
p.W190*
c.570G>A
3 papers
NM_000474.4
p.W190*
c.569G>A
1 paper
NM_000474.4
p.S201fs
c.601_602fs
1 paper
NM_000474.4
p.S201F
c.602C>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."