TOP2A (DNA topoisomerase 2-alpha) variants and mutations

TOP2A (also known as DNA topoisomerase 2-alpha) is a human protein-coding gene encoding a DNA topoisomerase 2-alpha protein. It resolves DNA tangles and supercoils by passing one double helix through a transient double-strand break in another, a process essential during replication and chromosome segregation. It is the target of widely used anticancer drugs including anthracyclines and etoposide. This analysis covers 1,866 TOP2A variants and mutations. Of these, 59% have computational variant effect predictions. Disease context includes neoplasm, breast cancer, and acute myeloid leukemia. Example TOP2A variants include M1?, E2*, and E2K.

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 TOP2A variants

Examples include M1?, E2*, E2K, V3L, S4*, S4T, P5L, Q7*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.