TOR1A Back

torsin family 1, member A (torsin A)

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NCBI Description of TOR1A

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 nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1.

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

TOR1A is highly significantly mutated in
(none)
TOR1A is significantly mutated in
(none)
TOR1A is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for TOR1A