COL8A1 Back

collagen, type VIII, alpha 1

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NCBI Description of COL8A1

This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed.

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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

COL8A1 is highly significantly mutated in
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COL8A1 is significantly mutated in
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COL8A1 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 COL8A1