UGT1A1 (UDP-glucuronosyltransferase 1A1) variants and mutations

UGT1A1 (also known as UDP-glucuronosyltransferase 1A1) is a human protein-coding gene encoding an UDP-glucuronosyltransferase 1A1 protein. It conjugates bilirubin and many lipophilic compounds with glucuronic acid, enabling efficient elimination in bile or urine. Reduced activity causes Gilbert syndrome or Crigler-Najjar syndrome and can also increase toxicity from drugs such as irinotecan. This analysis covers 1,285 UGT1A1 variants and mutations. Of these, 85% have computational variant effect predictions. Disease context includes Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome type 2, and Gilbert syndrome. Example UGT1A1 variants include M1R, A2G, and A2P.

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, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable UGT1A1 variants

Examples include M1R, A2G, A2P, A2S, A2T, A2V, A2A, V3G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.