rs2483046820
This variant is located in the PERP gene.
▶ClinVar annotation
About PERP
Involved in positive regulation of neutrophil chemotaxis and positive regulation of proteolysis. Predicted to be located in desmosome and plasma membrane. Predicted to be active in cell-cell junction. Implicated in erythrokeratodermia variabilis and mutilating palmoplantar keratoderma with periorificial keratotic plaques. [provided by Alliance of Genome Resources, Jul 2025]
View all PERP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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