FKRP Back

fukutin related protein

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NCBI Description of FKRP
This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.

Community Annotation of FKRP Add / Edit FKRP: 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

FKRP is highly significantly mutated in
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FKRP is significantly mutated in
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FKRP 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 FKRP