SCN5A Back

sodium channel, voltage-gated, type V, alpha subunit

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NCBI Description of SCN5A
The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms.

Community Annotation of SCN5A Add / Edit SCN5A: 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).


Legend

SCN5A is highly significantly mutated in
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SCN5A is significantly mutated in
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SCN5A 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 SCN5A