PRKCH (Protein kinase C eta type) variants and mutations

PRKCH (also known as Protein kinase C eta type) is a human protein-coding gene encoding a protein kinase C eta type protein. Its annotated function is calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that is involved in the regulation of cell differentiation in keratinocytes and pre-B cell receptor, mediates regulation of epithelial…. It is annotated at the cytoplasm. This analysis covers 861 PRKCH variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes obesity disorder, intervertebral disk degenerative disorder, and androgenetic alopecia. Example PRKCH variants include S2L, S2*, and S2W.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, Open Targets, MaveDB, LitVar.

Notable PRKCH variants

Examples include S2L, S2*, S2W, S2S, S3P, S3Y, S3S, S3C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.