AIP (AH receptor-interacting protein) variants and mutations

AIP (also known as AH receptor-interacting protein) is a human protein-coding gene encoding an AH receptor-interacting protein. It acts as a co-chaperone and tumor suppressor in pituitary cells, interacting with signaling and protein-folding machinery. Germline loss-of-function variants predispose to familial isolated pituitary adenomas, particularly growth-hormone-secreting tumors that often present at a young age. This analysis covers 793 AIP variants and mutations. Of these, 83% have computational variant effect predictions. Disease context includes growth hormone-secreting pituitary adenoma, familial isolated pituitary adenoma, and growth hormone secreting pituitary adenoma 1. Example AIP variants include M1I, M1T, and A2G.

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 AIP variants

Examples include M1I, M1T, A2G, A2P, A2V, A2A, D3G, D3D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.