HNF4A (P41235) variants and mutations

HNF4A (also known as P41235) is a human protein-coding gene encoding a hepatocyte nuclear factor 4-alpha protein. It coordinates transcription of genes involved in hepatic metabolism and pancreatic beta-cell function. Heterozygous pathogenic variants can cause maturity-onset diabetes of the young, often with fetal overgrowth and transient neonatal hyperinsulinemic hypoglycemia in affected families. This analysis covers 794 HNF4A variants and mutations. Of these, 70% have computational variant effect predictions. Disease context includes MODY, type 2 diabetes mellitus, and renal cysts and diabetes syndrome. Example HNF4A variants include R2*, R2Q, and R2R.

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 HNF4A variants

Examples include R2*, R2Q, R2R, R2P, L3F, L3P, L3N, L3L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.