Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.A141delFs

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.A141delFs
c.423delA
Surrounding Variants
2 papers
NM_000113.3
p.N143D
c.427A>G
1 paper
NM_000113.3
p.H140N
c.418C>A
1 paper
NM_000113.3
p.T145I
c.434C>T
1 paper
NM_000113.3
p.Y147C
c.440A>G
1 paper
NM_000113.3
p.H137R
c.410A>G
1 paper
NM_000113.3
p.K148E
c.442A>G
1 paper
NM_000113.3
p.L131_T135del0
c.391_405del15
1 paper
NM_000113.3
p.L146_K148delFs
c.436_443del8
1 paper
NM_000113.3
p.A134_T135ins5
c.400_404ins15
1 paper
NM_000113.3
p.F132S
c.395T>C
1 paper
NM_000113.3
p.V129L
c.385G>C
3 papers
NM_000113.3
p.V129I
c.385G>A
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