LOR Back

loricrin

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NCBI Description of LOR

This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel's syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases. Sequence Note: Two alleles are present in unaffected individuals. The RefSeq record represents the allele present in the reference genome.

Community Annotation of LOR Add / Edit LOR: 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

LOR is highly significantly mutated in
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LOR is significantly mutated in
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LOR 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 LOR