Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.D264fs

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.D264fs
c.790_791fs
Surrounding Variants
1 paper
NM_000113.3
p.D264A
c.791A>C
1 paper
NM_000113.3
p.Y265*
c.795T>G
1 paper
NM_000113.3
p.Y265*
c.795T>A
1 paper
NM_000113.3
p.Y265_F266delFs
c.795_798del4
1 paper
NM_000113.3
p.N261D
c.781A>G
1 paper
NM_000113.3
p.P268S
c.802C>T
1 paper
NM_000113.3
p.D259H
c.775G>C
2 papers
NM_000113.3
p.F269S
c.806T>C
1 paper
NM_000113.3
p.L272delFs
c.814delG
1 paper
NM_000113.3
p.S255R
c.765C>G
1 paper
NM_000113.3
p.S255R
c.765C>A
1 paper
NM_000113.3
p.L272fs
c.814_815fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."