GNAI1 (P63096) variants and mutations

GNAI1 (also known as P63096) is a human protein-coding gene encoding a guanine nucleotide-binding protein G(i) subunit alpha-1 protein. It couples inhibitory G-protein-coupled receptors to downstream effectors, including suppression of adenylyl cyclase and modulation of ion channels. Pathogenic variants can disturb neuronal signaling and have been associated with developmental movement disorders and neurodevelopmental phenotypes. This analysis covers 541 GNAI1 variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abno, polycystic ovary syndrome, and hereditary disease. Example GNAI1 variants include M1V, G2C, and G2S.

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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable GNAI1 variants

Examples include M1V, G2C, G2S, G2D, G2V, G2G, C3R, C3Y. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.