Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.R156*

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.R156*
c.466C>T
Surrounding Variants
1 paper
NM_000113.3
p.R156Q
c.467G>A
1 paper
NM_000113.3
p.G157A
c.470G>C
1 paper
NM_000113.3
p.L153*
c.458T>A
1 paper
NM_000113.3
p.N158delFs
c.474delG
1 paper
NM_000113.3
p.Q150P
c.449A>C
2 papers
NM_000113.3
p.C162S
c.484T>A
2 papers
NM_000113.3
p.C162S
c.485G>C
1 paper
NM_000113.3
p.A163V
c.488C>T
1 paper
NM_000113.3
p.S165T
c.493T>A
1 paper
NM_000113.3
p.K148_D149Splc
c.445-8T>C
1 paper
NM_000113.3
p.I166_F167insA
c.496_500ins3
2 papers
NM_000113.3
p.F169S
c.506T>C
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