SCN8A Back

sodium channel, voltage gated, type VIII, alpha subunit

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NCBI Description of SCN8A
This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with mental retardation, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.

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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

SCN8A is highly significantly mutated in
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SCN8A is significantly mutated in
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SCN8A 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 SCN8A