PLK1 (P53350) variants and mutations

PLK1 (also known as P53350) is a human protein-coding gene encoding a serine/threonine-protein kinase protein. It coordinates centrosome maturation, chromosome segregation, spindle function, and cytokinesis during mitosis. Many tumors overexpress PLK1 and depend on its activity for rapid proliferation, making it a prominent anticancer drug target. This analysis covers 776 PLK1 variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes neurodegenerative disease, Alzheimer disease, and Parkinson disease. Example PLK1 variants include S2G, S2C, and S2N.

Variant analysis overview

Gene: PLK1
Protein: P53350
UniProt accession: P53350
Organism: Homo sapiens
Variants analyzed: 776
Variant scope: all variants
Completed: 2026-08-20

Variant and mutation evidence

Variant composition: 551 unspecified-consequence records; 110 missense variants; 98 synonymous variants; 10 frameshift variants; 3 in-frame deletions; 1 stop-gained variants; 1 in-frame insertions; 2 substitution
Prediction scores: 613 variants have prediction scores (79% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: neurodegenerative disease, Alzheimer disease, Parkinson disease, lysosomal storage disease, multiple sclerosis, microcephaly, Intellectual disability, epilepsy, genetic developmental and epileptic encephalopathy, developmental and epileptic encephalopathy, acute myeloid leukemia by FAB classification, autoimmune disorder of central nervous system.

Protein structure and variant hotspots

Protein features: 3 domains; 5 binding sites; 11 post-translational modification sites.
Structural context: 453 variants have structural context.
PTM context: 23 variants overlap post-translational modification sites.

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 PLK1 variants

Examples include S2G, S2C, S2N, S2I, S2S, A3T, A3S, A3D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

PLK1 analysis run — PLK1 (776 variants) — completed 2026-08-20