Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.W103*

TOR1A

446 papers

RefSeq Summary

The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia n...

Pfam Domains

Torsinaa 44–169UCSCTorsin
TOR1A_Caa 272–329UCSCTorsin-1A, C-terminal domain

Gene Aliases

HGNC Name

torsin family 1 member A

HGNC Previous Symbol

DYT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
17 papers
NM_000113.3
p.W103*
c.308G>A
Surrounding Variants
1 paper
NM_000113.3
p.W103*
c.309G>A
2 papers
NM_000113.3
p.G102R
c.304G>C
2 papers
NM_000113.3
p.G102R
c.304G>A
2 papers
NM_000113.3
p.H101delFs
c.303delG
1 paper
NM_000113.3
p.L100L
c.300G>A
2 papers
NM_000113.3
p.G107D
c.320G>A
1 paper
NM_000113.3
p.L98P
c.293T>C
1 paper
NM_000113.3
p.L98H
c.293T>A
1 paper
NM_000113.3
p.K108T
c.323A>C
1 paper
NM_000113.3
p.T97R
c.290C>G
1 paper
NM_000113.3
p.N109T
c.326A>C
2 papers
NM_000113.3
p.T97A
c.289A>G
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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."