Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.D188A

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.D188A
c.563A>C
Surrounding Variants
1 paper
NM_000113.3
p.D188Y
c.562G>T
1 paper
NM_000113.3
p.D188D
c.564C>T
1 paper
NM_000113.3
p.Y190insFs
c.568_569insT
3 papers
NM_000113.3
p.D191N
c.571G>A
1 paper
NM_000113.3
p.K184E
c.550A>G
1 paper
NM_000113.3
p.D188_L192delFs
c.564_576del13
5 papers
NM_000113.3
p.D194V
c.581A>T
1 paper
NM_000113.3
p.S197F
c.590C>T
1 paper
NM_000113.3
p.S197S
c.591C>T
1 paper
NM_000113.3
p.Y198_Q199ins7
c.592_596ins21
2 papers
NM_000113.3
p.K174R
c.521A>G
1 paper
NM_000113.3
p.K174E
c.520A>G
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