Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.D216G

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.D216G
c.647A>G
Surrounding Variants
1 paper
NM_000113.3
p.D216E
c.648T>G
1 paper
NM_000113.3
p.D216E
c.648T>A
94 papers
NM_000113.3
p.D216H
c.646G>C
1 paper
NM_000113.3
p.D216N
c.646G>A
1 paper
NM_000113.3
p.R213delFs
c.639delC
1 paper
NM_000113.3
p.R213M
c.638G>T
3 papers
NM_000113.3
p.F221S
c.662T>C
1 paper
NM_000113.3
p.R223M
c.668G>T
1 paper
NM_000113.3
p.A209V
c.626C>T
1 paper
NM_000113.3
p.A209insFs
c.625_626insG
1 paper
NM_000113.3
p.A209D
c.626C>A
4 papers
NM_000113.3
p.S224C
c.670A>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."