Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.K275E

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
2 papers
NM_000113.3
p.K275E
c.823A>G
Surrounding Variants
2 papers
NM_000113.3
p.K275fs
c.823_824fs
1 paper
NM_000113.3
p.Y274H
c.820T>C
1 paper
NM_000113.3
p.H276Q
c.828C>A
1 paper
NM_000113.3
p.L272fs
c.814_815fs
1 paper
NM_000113.3
p.L272delFs
c.814delG
1 paper
NM_000113.3
p.M279delFs
c.835delT
2 papers
NM_000113.3
p.C280S
c.838T>A
2 papers
NM_000113.3
p.C280S
c.839G>C
2 papers
NM_000113.3
p.F269S
c.806T>C
1 paper
NM_000113.3
p.I281M
c.843C>G
1 paper
NM_000113.3
p.R282*
c.844C>T
1 paper
NM_000113.3
p.P268S
c.802C>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."