Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.E303A

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.E303A
c.908A>C
Surrounding Variants
1 paper
NM_000113.3
p.E303*
c.907G>T
1 paper
NM_000113.3
p.E303Q
c.907G>C
107 papers
NM_000113.3
p.E303del1
c.907_909delCTC
1 paper
NM_000113.3
p.E302A
c.905A>C
1 paper
NM_000113.3
p.E302Q
c.904G>C
1 paper
NM_000113.3
p.A301T
c.901G>A
1 paper
NM_000113.3
p.V297_S298del1
c.890_892delTTA
1 paper
NM_000113.3
p.P308P
c.924C>T
1 paper
NM_000113.3
p.D295_I296insFs
c.885_886insT
1 paper
NM_000113.3
p.R312G
c.934A>G
4 papers
NM_000113.3
p.R312fs
c.934_935fs
2 papers
NM_000113.3
p.E294*
c.880G>T
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."