RPGRIP1 Back

retinitis pigmentosa GTPase regulator interacting protein 1

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NCBI Description of RPGRIP1
This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness.

Community Annotation of RPGRIP1 Add / Edit RPGRIP1: Annotations

No community annotations yet for RPGRIP1.
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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

RPGRIP1 is highly significantly mutated in
(none)
RPGRIP1 is significantly mutated in
(none)
RPGRIP1 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 RPGRIP1