POLD4
DNA polymerase delta 4, accessory subunit
Summary
This gene encodes the smallest subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein enhances the activity of DNA polymerase delta and plays a role in fork repair and stabilization through interactions with the DNA helicase Bloom syndrome protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
Known Variants7 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201016876 | 11:67,120,220 | G/T | — | uncertain significance |
| rs1449341558 | 11:67,120,264 | C/A | — | uncertain significance |
| rs372657387 | 11:67,120,472 | G/A | — | likely benign |
| rs780314719 | 11:67,120,480 | A/G | — | uncertain significance |
| rs28364240 | 11:67,120,530 | C/A | missense variant | — |
| rs2496002077 | 11:67,120,816 | C/T | — | uncertain significance |
| rs778149868 | 11:67,120,836 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.