Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.R312_V313delFs

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.R312_V313delFs
c.936_937delCT
Surrounding Variants
10 papers
NM_000113.3
p.R312_V313delFs
c.934_937del4
1 paper
NM_000113.3
p.F314_S315insFs
c.942_943insT
1 paper
NM_000113.3
p.F314fs
c.940_941fs
1 paper
NM_000113.3
p.R312G
c.934A>G
4 papers
NM_000113.3
p.R312fs
c.934_935fs
1 paper
NM_000113.3
p.V313_F314delFs
c.939_942del4
1 paper
NM_000113.3
p.K317*
c.949A>T
5 papers
NM_000113.3
p.G318S
c.952G>A
1 paper
NM_000113.3
p.P308P
c.924C>T
2 papers
NM_000113.3
p.C319S
c.955T>A
2 papers
NM_000113.3
p.C319S
c.956G>C
2 papers
NM_000113.3
p.K320E
c.958A>G
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