FLCN Back

folliculin

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NCBI Description of FLCN

This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms.

Community Annotation of FLCN Add / Edit FLCN: 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

FLCN is highly significantly mutated in
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FLCN is significantly mutated in
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FLCN 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 FLCN