rs751702177

This variant is located in the TOR1AIP2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About TOR1AIP2

One of the two protein isoforms encoded by this gene is a type II integral membrane protein found in the endoplasmic reticulum (ER). The encoded protein is a cofactor for the ATPase TorsinA, regulating the amount of TorsinA present in the ER compared to that found in the nuclear envelope. Defects in this protein are a cause of early onset primary dystonia, a neuromuscular disease. The other isoform encoded by this gene is an interferon alpha responsive protein whose cellular role has yet to be determined. [provided by RefSeq, Mar 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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