POC1A Back

POC1 centriolar protein homolog A (Chlamydomonas)

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NCBI Description of POC1A

POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome.

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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

POC1A is highly significantly mutated in
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POC1A is significantly mutated in
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POC1A 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 POC1A