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fibrillin 2 (congenital contractural arachnodactyly)

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NCBI Description of FBN2

The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly.

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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

FBN2 is highly significantly mutated in
(none)
FBN2 is significantly mutated in
(none)
FBN2 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 FBN2