EPM2AIP1 Back

EPM2A (laforin) interacting protein 1

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NCBI Description of EPM2AIP1

The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is not known. This gene is intronless.

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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

EPM2AIP1 is highly significantly mutated in
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EPM2AIP1 is significantly mutated in
(none)
EPM2AIP1 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 EPM2AIP1