POLD1 : D515V
This variant affects the catalytic amino acid residue in the exonuclease active site of DNA polymerase δ. It severely reduces the exonuclease activity and elevates the mutation rate in model systems.
This variant affects the catalytic amino acid residue in the exonuclease active site of DNA polymerase δ. It severely reduces the exonuclease activity and elevates the mutation rate in model systems.