GNAS (P63092) variants and mutations

GNAS (also known as P63092) is a human protein-coding gene encoding a guanine nucleotide-binding protein G(s) subunit alpha isoforms short protein. It produces the stimulatory G-alpha subunit that activates adenylyl cyclase downstream of many hormone receptors, with complex tissue-specific imprinting at the locus. Inactivating variants cause pseudohypoparathyroidism-spectrum disorders, while activating somatic variants cause McCune-Albright syndrome and some endocrine tumors. This analysis covers 1,283 GNAS variants and mutations. Of these, 55% have computational variant effect predictions. Disease context includes pseudohypoparathyroidism type 1A, pseudohypoparathyroidism type 1C, and McCune-Albright syndrome. Example GNAS variants include M1A, M1V, and M1I.

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 GNAS variants

Examples include M1A, M1V, M1I, M1L, M1T, M1R, G2V, C3S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.