SPINK5 Back

serine peptidase inhibitor, Kazal type 5

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NCBI Description of SPINK5

This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The inhibitor may play a role in skin and hair morphogenesis and anti-inflammatory and/or antimicrobial protection of mucous epithelia. Mutations may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. Multiple transcript variants encoding different isoforms have been found for this gene.

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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

SPINK5 is highly significantly mutated in
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SPINK5 is significantly mutated in
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SPINK5 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 SPINK5