GNA11 (P29992) variants and mutations

GNA11 (also known as P29992) is a human protein-coding gene encoding a guanine nucleotide-binding protein subunit alpha-11 protein. It transmits signals from Gq-coupled receptors to phospholipase C and downstream calcium and protein-kinase-C pathways. Germline activating variants can cause autosomal dominant hypocalcemia, while somatic activating variants drive uveal melanoma and some vascular lesions. This analysis covers 1,168 GNA11 variants and mutations. Of these, 40% have computational variant effect predictions. Disease context includes Familial isolated hypoparathyroidism, familial hypocalciuric hypercalcemia 2, and Familial hypocalciuric hypercalcemia type 2. Example GNA11 variants include T2A, T2I, and T2S.

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 GNA11 variants

Examples include T2A, T2I, T2S, T2N, T2T, L3P, L3L, L3V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.