rs782352450

This variant is located in the PRKCD gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

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About PRKCD

The protein encoded by this gene is a member of the protein kinase C family of serine- and threonine-specific protein kinases. The encoded protein is activated by diacylglycerol and is both a tumor suppressor and a positive regulator of cell cycle progression. Also, this protein can positively or negatively regulate apoptosis. Defects in this gene are a cause of autoimmune lymphoproliferative syndrome. [provided by RefSeq, Aug 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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