Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.L272delFs

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.L272delFs
c.814delG
Surrounding Variants
1 paper
NM_000113.3
p.L272fs
c.814_815fs
1 paper
NM_000113.3
p.Y274H
c.820T>C
2 papers
NM_000113.3
p.K275E
c.823A>G
2 papers
NM_000113.3
p.K275fs
c.823_824fs
2 papers
NM_000113.3
p.F269S
c.806T>C
1 paper
NM_000113.3
p.P268S
c.802C>T
1 paper
NM_000113.3
p.H276Q
c.828C>A
1 paper
NM_000113.3
p.Y265_F266delFs
c.795_798del4
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.M279delFs
c.835delT
2 papers
NM_000113.3
p.C280S
c.838T>A
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