PRKAR1A (P10644) variants and mutations

PRKAR1A (also known as P10644) is a human protein-coding gene encoding a cAMP-dependent protein kinase type I-alpha regulatory subunit protein. It restrains protein kinase A activity in the absence of cyclic AMP and thereby controls a wide range of endocrine and growth signals. Germline loss-of-function variants cause Carney complex, with endocrine overactivity, spotty pigmentation, myxomas, and multiple tumor predispositions. This analysis covers 875 PRKAR1A variants and mutations. Of these, 56% have computational variant effect predictions. Disease context includes Carney complex, type 1, Acrodysostosis 1 with or without hormone resistance, and Carney complex. Example PRKAR1A variants include M1I, M1V, and E2D.

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, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable PRKAR1A variants

Examples include M1I, M1V, E2D, E2Q, E2V, S3C, S3F, S3P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.