CASQ1 Back

calsequestrin 1 (fast-twitch, skeletal muscle)

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NCBI Description of CASQ1

The protein encoded by this gene is a mitochondrial calcium-binding protein located in the luminal space of the terminal cisternae of the sarcoplasmic reticulum. The protein binds and putatively stores calcium ions. The protein is absent in patients with Duchenne and Becker types of muscular dystrophy.

Community Annotation of CASQ1 Add / Edit CASQ1: Annotations

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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).


CASQ1 is highly significantly mutated in
CASQ1 is significantly mutated in
CASQ1 is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for CASQ1