Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.K325R

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.K325R
c.974A>G
Surrounding Variants
1 paper
NM_000113.3
p.D327fs
c.979_980fs
1 paper
NM_000113.3
p.T321delFs
c.963delC
1 paper
NM_000113.3
p.Y328*
c.984T>G
1 paper
NM_000113.3
p.Y328*
c.984T>A
8 papers
NM_000113.3
p.V322_Y328del0
c.966_983del18
6 papers
NM_000113.3
p.T321M
c.962C>T
2 papers
NM_000113.3
p.T321delFs
c.961delT
1 paper
NM_000113.3
p.Y328_Y329delFs
c.984_985delAA
5 papers
NM_000113.3
p.T321fs
c.961_962fs
2 papers
NM_000113.3
p.Y328del1
c.982_983delATA
1 paper
NM_000113.3
p.K320R
c.959A>G
2 papers
NM_000113.3
p.K320E
c.958A>G
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