DPYD (Q12882) variants and mutations

DPYD (also known as Q12882) is a human protein-coding gene encoding a dihydropyrimidine dehydrogenase [NADP(+)] protein. It performs the rate-limiting catabolic step for uracil and thymine and clears most administered fluoropyrimidine drug. Reduced activity can cause dihydropyrimidine dehydrogenase deficiency and markedly increases the risk of severe 5-fluorouracil or capecitabine toxicity. This analysis covers 2,295 DPYD variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes dihydropyrimidine dehydrogenase deficiency, gastric cancer, and hereditary disease. Example DPYD variants include M1I, M1L, and A2S.

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, ClinGen, MaveDB, LitVar.

Notable DPYD variants

Examples include M1I, M1L, A2S, A2T, A2V, P3S, L5F, S6G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.