S461P : Biochemical assays
This variant increases the error rate of human DNA polymerase ε in vitro.
References
- Shlien, A., et al. Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers. Nat Genet 47, 257-262 (2015). https://pubmed.ncbi.nlm.nih.gov/25642631/