PARP1 (Poly [ADP-ribose] polymerase 1) variants and mutations

PARP1 (also known as Poly [ADP-ribose] polymerase 1) is a human protein-coding gene encoding a poly [ADP-ribose] polymerase 1 protein. It detects DNA strand breaks and adds poly(ADP-ribose) chains to itself and other proteins, recruiting repair machinery and coordinating stress responses. Tumors deficient in homologous recombination can become highly dependent on this pathway, creating the synthetic-lethal basis for PARP-inhibitor therapy. This analysis covers 1,804 PARP1 variants and mutations. Of these, 55% have computational variant effect predictions. Example PARP1 variants include A2G, A2V, and E3G.

Variant analysis overview

Variant and mutation evidence

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, MaveDB, LitVar.

Notable PARP1 variants

Examples include A2G, A2V, E3G, S4C, S4F, S4P, S4Y, S5L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.