Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.N88T

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.N88T
c.263A>C
Surrounding Variants
2 papers
NM_000113.3
p.N88N
c.264C>T
1 paper
NM_000113.3
p.I87R
c.260T>G
1 paper
NM_000113.3
p.N89S
c.266A>G
1 paper
NM_000113.3
p.P90L
c.269C>T
1 paper
NM_000113.3
p.N88_P90delFs
c.262_268del7
1 paper
NM_000113.3
p.K91*
c.271A>T
1 paper
NM_000113.3
p.F84_G85insFs
c.252_253insT
2 papers
NM_000113.3
p.G85R
c.253G>C
1 paper
NM_000113.3
p.F84delFs
c.252delA
1 paper
NM_000113.3
p.F84Y
c.251T>A
10 papers
NM_000113.3
p.A82A
c.246C>T
2 papers
NM_000113.3
p.P95L
c.284C>T
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