PDZD7 Back

PDZ domain containing 7

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NCBI Description of PDZD7
This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene.

Community Annotation of PDZD7 Add / Edit PDZD7: 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

PDZD7 is highly significantly mutated in
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PDZD7 is significantly mutated in
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PDZD7 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 PDZD7