POLD3
DNA polymerase delta 3, accessory subunit
Summary
This gene encodes the 66-kDa 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 plays a role in regulating the activity of DNA polymerase delta through interactions with other subunits and the processivity cofactor proliferating cell nuclear antigen (PCNA). Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2547212557 | 11:74,303,732 | T/C | — | no classifications from unflagged records |
| rs755212587 | 11:74,305,128 | A/G | — | uncertain significance |
| rs34702292 | 11:74,311,624 | G/A | intron variant | — |
| rs750591060 | 11:74,315,779 | A/G | — | likely benign |
| rs746476517 | 11:74,324,034 | G/A | — | uncertain significance |
| rs116112251 | 11:74,329,638 | C/G | — | uncertain significance |
| rs147850084 | 11:74,329,713 | A/G | — | uncertain significance |
| rs1179929935 | 11:74,329,818 | A/C | — | uncertain significance |
| rs149924840 | 11:74,329,841 | G/A | — | benign |
| rs7943085 | 11:74,330,208 | G/C | intron variant | — |
| rs10899018 | 11:74,334,655 | T/C | intron variant | — |
| rs375954131 | 11:74,336,609 | A/C | — | uncertain significance |
| rs57796856 | 11:74,338,355 | A/T | intron variant | — |
| rs1259429251 | 11:74,340,263 | G/C | — | uncertain significance |
| rs116368997 | 11:74,340,294 | C/T | — | benign |
| rs1341718345 | 11:74,340,300 | A/G | — | uncertain significance |
| rs61903866 | 11:74,341,834 | C/G | — | — |
| rs3824999 | 11:74,345,550 | T/G | regulatory region variant | — |
| rs2032693518 | 11:74,345,662 | G/T | — | uncertain significance |
| rs375020444 | 11:74,345,681 | C/T | — | uncertain significance |
| rs2547240389 | 11:74,345,715 | C/G | — | uncertain significance |
| rs531237845 | 11:74,345,720 | C/T | — | uncertain significance |
| rs56262204 | 11:74,345,723 | G/C | — | benign |
| rs181857010 | 11:74,345,739 | A/C | — | no classifications from unflagged records |
| rs572105600 | 11:74,347,275 | C/T | — | uncertain significance |
| rs144289047 | 11:74,351,626 | G/A | — | uncertain significance |
| rs2547243922 | 11:74,351,699 | T/G | — | uncertain significance |
| rs7128944 | 11:74,367,384 | G/C | — | — |
| rs11236202 | 11:74,376,692 | A/C | — | — |
| rs4944057 | 11:74,378,503 | G/A | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.