RD3 Back

retinal degeneration 3

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NCBI Description of RD3

This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants.

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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).


RD3 is highly significantly mutated in
RD3 is significantly mutated in
RD3 is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for RD3