HNF1B (Hepatocyte nuclear factor 1-beta) variants and mutations

HNF1B (also known as Hepatocyte nuclear factor 1-beta) is a human protein-coding gene encoding a hepatocyte nuclear factor 1-beta protein. It controls developmental and metabolic gene programs in kidney, pancreas, liver, and genital tract. Haploinsufficiency or intragenic pathogenic variants cause a multisystem disorder often featuring renal cysts or malformations, maturity-onset diabetes of the young, hypomagnesemia, and genital abnormalities. This analysis covers 996 HNF1B variants and mutations. Of these, 75% have computational variant effect predictions. Disease context includes renal cysts and diabetes syndrome, type 2 diabetes mellitus, and maturity-onset diabetes of the young. Example HNF1B variants include M1I, K4R, and K4T.

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 HNF1B variants

Examples include M1I, K4R, K4T, L5P, S7L, Q9*, Q10K, E11G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.