Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.S112R

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
1 paper
NM_000113.3
p.S112R
c.336C>G
Surrounding Variants
1 paper
NM_000113.3
p.S112R
c.336C>A
1 paper
NM_000113.3
p.S112R
c.334A>C
1 paper
NM_000113.3
p.N109T
c.326A>C
1 paper
NM_000113.3
p.K108T
c.323A>C
2 papers
NM_000113.3
p.G107D
c.320G>A
1 paper
NM_000113.3
p.N118I
c.353A>T
1 paper
NM_000113.3
p.N118insFs
c.354dupT
1 paper
NM_000113.3
p.I119fs
c.355_356fs
1 paper
NM_000113.3
p.Y120Y
c.360C>T
1 paper
NM_000113.3
p.E121*
c.361G>T
10 papers
NM_000113.3
p.E121K
c.361G>A
1 paper
NM_000113.3
p.E121V
c.362A>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."