Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.A239V

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.A239V
c.716C>T
Surrounding Variants
2 papers
NM_000113.3
p.L240S
c.719T>C
1 paper
NM_000113.3
p.E237K
c.709G>A
1 paper
NM_000113.3
p.I231N
c.692T>A
1 paper
NM_000113.3
p.D230H
c.688G>C
1 paper
NM_000113.3
p.N249insFs
c.745_746ins4
1 paper
NM_000113.3
p.N249K
c.747C>A
1 paper
NM_000113.3
p.N249delFs
c.745_746delTT
1 paper
NM_000113.3
p.G225insFs
c.673_674insC
4 papers
NM_000113.3
p.S224C
c.670A>T
1 paper
NM_000113.3
p.R223M
c.668G>T
3 papers
NM_000113.3
p.F221S
c.662T>C
1 paper
NM_000113.3
p.D216E
c.648T>G
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