Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.R288Q

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
39 papers
NM_000113.3
p.R288Q
c.863G>A
Surrounding Variants
11 papers
NM_000113.3
p.R288*
c.862C>T
1 paper
NM_000113.3
p.S287F
c.860C>T
2 papers
NM_000113.3
p.S287Y
c.860C>A
1 paper
NM_000113.3
p.Q286*
c.856C>T
1 paper
NM_000113.3
p.E291K
c.871G>A
2 papers
NM_000113.3
p.E294*
c.880G>T
1 paper
NM_000113.3
p.R282P
c.845G>C
1 paper
NM_000113.3
p.R282*
c.844C>T
1 paper
NM_000113.3
p.I281M
c.843C>G
1 paper
NM_000113.3
p.D295_I296insFs
c.885_886insT
2 papers
NM_000113.3
p.C280S
c.839G>C
2 papers
NM_000113.3
p.C280S
c.838T>A
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