rs549347508
This variant is located in the CARD14 gene.
▶ClinVar annotation
Psoriasis 2;Pityriasis rubra pilaris; Autoinflammatory syndrome
View on ClinVar →About CARD14
This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
View all CARD14 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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