NPM1 (Nucleophosmin) variants and mutations

NPM1 (also known as Nucleophosmin) is a human protein-coding gene encoding a nucleophosmin protein. It coordinates ribosome biogenesis, nucleolar stress responses, centrosome regulation, and nucleocytoplasmic transport. Recurrent frameshift variants that mislocalize the protein to cytoplasm define one of the most common molecular subtypes of acute myeloid leukemia. This analysis covers 526 NPM1 variants and mutations. Of these, 57% have computational variant effect predictions. Disease context includes cancer, non-small cell lung carcinoma, and acute myeloid leukemia. Example NPM1 variants include M1?, E2D, and E2E.

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 NPM1 variants

Examples include M1?, E2D, E2E, D3E, D3H, D3Y, D3D, S4L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.