P286H : Biochemical assays
This variant strongly reduces the exonuclease activity and increases the error rate of human DNA polymerase ε in vitro.
References
- Shinbrot, E. et al. Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication. Genome Res 24, 1740-50 (2014). pubmed.ncbi.nlm.nih.gov/25228659/