CFHR3 Back

complement factor H-related 3

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NCBI Description of CFHR3
The protein encoded by this gene is a secreted protein, which belongs to the complement factor H-related protein family. It binds to heparin, and may be involved in complement regulation. Mutations in this gene are associated with decreased risk of age-related macular degeneration, and with an increased risk of atypical hemolytic-uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Community Annotation of CFHR3 Add / Edit CFHR3: 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

CFHR3 is highly significantly mutated in
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CFHR3 is significantly mutated in
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CFHR3 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 CFHR3