PIM1 (P11309) variants and mutations

PIM1 (also known as P11309) is a human protein-coding gene encoding a serine/threonine-protein kinase pim-1 protein. It promotes cell survival, proliferation, and protein translation downstream of cytokine and oncogenic signaling. Overexpression or genomic activation is common in hematologic malignancies and some solid tumors, where it can cooperate with MYC and other oncogenes. This analysis covers 592 PIM1 variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes CODAS syndrome, neurodegenerative disease, and hereditary disease. Example PIM1 variants include L2F, L2H, and L2S.

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 PIM1 variants

Examples include L2F, L2H, L2S, L2L, L3F, L3L, L3*, S4C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.