GNAQ (P50148) variants and mutations

GNAQ (also known as P50148) is a human protein-coding gene encoding a guanine nucleotide-binding protein G(q) subunit alpha protein. It links Gq-coupled receptors to phospholipase C signaling and intracellular calcium release. Somatic activating variants are major drivers of uveal melanoma and Sturge-Weber-associated vascular malformations, depending on the developmental timing and cell type affected. This analysis covers 872 GNAQ variants and mutations. Of these, 44% have computational variant effect predictions. Disease context includes Sturge-Weber syndrome, familial multiple nevi flammei, and congenital hemangioma. Example GNAQ variants include T2I, T2S, and L3R.

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, MaveDB, LitVar.

Notable GNAQ variants

Examples include T2I, T2S, L3R, L3V, E4D, I6F, I6L, I6M. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.