PolED: a manually curated database of functional studies of POLE and POLD1 variants reported in humans

Human POLE and POLD1 genes encode DNA polymerases responsible for genome replication and proofreading of DNA synthesis errors. Germline and somatic POLE/POLD1 mutations compromising the polymerase fidelity cause cancers with high mutational burden. Ultramutation is associated with a better prognosis and immunotherapy response, highlighting the need to define tumour POLE/POLD1 status unambiguously. Prior studies assessed the functional significance of numerous POLE/POLD1 variants in experimental...