POLK
DNA polymerase kappa
Summary
This gene encodes a member of the DNA polymerase type-Y family of proteins. The encoded protein is a specialized DNA polymerase that catalyzes translesion DNA synthesis, which allows DNA replication in the presence of DNA lesions. Human cell lines lacking a functional copy of this gene exhibit impaired genome integrity and enhanced susceptibility to oxidative damage. Mutations in this gene that impair enzyme activity may be associated with prostate cancer in human patients. [provided by RefSeq, Sep 2016]
Known Variants78 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs5744552 | 5:74,816,944 | C/T | — | — |
| rs1553234 | 5:74,824,773 | A/G | intron variant | — |
| rs4704227 | 5:74,826,735 | G/C | — | — |
| rs201573914 | 5:74,842,875 | A/C | — | uncertain significance |
| rs768014953 | 5:74,842,931 | G/T | — | uncertain significance |
| rs148960463 | 5:74,842,932 | G/A | missense variant | pathogenic |
| rs5744598 | 5:74,846,613 | G/T | — | — |
| rs370547427 | 5:74,848,298 | G/A | — | uncertain significance |
| rs1432926521 | 5:74,848,331 | A/G | — | uncertain significance |
| rs786205689 | 5:74,848,342 | A/G | missense variant | — |
| rs749058868 | 5:74,848,370 | A/G | — | uncertain significance |
| rs13361353 | 5:74,861,691 | T/C | — | — |
| rs1158571061 | 5:74,865,309 | A/G | — | uncertain significance |
| rs863225454 | 5:74,869,564 | C/T | missense variant | pathogenic |
| rs1045228559 | 5:74,869,576 | A/G | — | uncertain significance |
| rs749804502 | 5:74,869,615 | G/A | missense variant | pathogenic |
| rs1554059550 | 5:74,869,618 | T/C | — | pathogenic |
| rs141564658 | 5:74,869,661 | C/A | synonymous variant | — |
| rs1554059573 | 5:74,869,666 | T/C | — | pathogenic |
| rs786205683 | 5:74,872,621 | C/A | missense variant | — |
| rs786205681 | 5:74,872,624 | A/C | missense variant | — |
| rs771096186 | 5:74,872,625 | T/G | — | uncertain significance |
| rs1416830516 | 5:74,872,672 | A/G | — | uncertain significance |
| rs786205684 | 5:74,872,673 | T/C | synonymous variant | — |
| rs762382051 | 5:74,877,148 | A/G | — | uncertain significance |
| rs2480052398 | 5:74,877,189 | G/C | — | uncertain significance |
| rs768146701 | 5:74,879,226 | A/G | — | uncertain significance |
| rs528839357 | 5:74,879,231 | C/T | — | uncertain significance |
| rs1345988580 | 5:74,880,702 | C/T | — | uncertain significance |
| rs111584802 | 5:74,882,880 | A/G | missense variant | pathogenic |
| rs779292513 | 5:74,886,170 | A/G | — | uncertain significance |
| rs770984846 | 5:74,886,193 | G/A | synonymous variant | pathogenic |
| rs1554062741 | 5:74,886,198 | A/G | — | pathogenic |
| rs776740469 | 5:74,886,200 | C/A | — | uncertain significance |
| rs1554062789 | 5:74,886,233 | C/T | — | pathogenic |
| rs1554062804 | 5:74,886,250 | G/A | — | pathogenic |
| rs1304454699 | 5:74,886,254 | G/A | — | pathogenic |
| rs786205685 | 5:74,886,262 | T/G | synonymous variant | — |
| rs2480185151 | 5:74,889,719 | T/C | — | uncertain significance |
| rs786205686 | 5:74,889,726 | G/A | synonymous variant | — |
| rs1554063600 | 5:74,889,727 | A/G | — | pathogenic |
| rs786205687 | 5:74,889,731 | A/G | missense variant | — |
| rs786205682 | 5:74,889,766 | G/T | missense variant | — |
| rs2480186108 | 5:74,889,767 | T/C | — | uncertain significance |
| rs786205695 | 5:74,889,783 | T/A | synonymous variant | — |
| rs786205696 | 5:74,889,787 | G/A | missense variant | — |
| rs1554063656 | 5:74,889,806 | T/C | — | pathogenic |
| rs786205692 | 5:74,889,823 | A/G | missense variant | — |
| rs2480216215 | 5:74,892,049 | G/A | — | uncertain significance |
| rs786205693 | 5:74,892,074 | A/C | missense variant | — |
| rs147350703 | 5:74,892,091 | C/A | — | uncertain significance |
| rs139591993 | 5:74,892,100 | A/T | missense variant | pathogenic |
| rs1554064175 | 5:74,892,170 | A/T | — | pathogenic |
| rs757103131 | 5:74,892,197 | A/G | missense variant | — |
| rs781194178 | 5:74,892,210 | G/A | synonymous variant | pathogenic |
| rs150567638 | 5:74,892,229 | A/G | — | uncertain significance |
| rs863225457 | 5:74,892,259 | G/A | missense variant | pathogenic |
| rs786205690 | 5:74,892,265 | T/A | missense variant | — |
| rs139550633 | 5:74,892,280 | G/T | — | uncertain significance |
| rs765587496 | 5:74,892,293 | G/A | — | uncertain significance |
| rs786205691 | 5:74,892,306 | A/T | synonymous variant | — |
| rs771611478 | 5:74,892,355 | T/C | missense variant | — |
| rs1773101011 | 5:74,892,400 | T/G | — | uncertain significance |
| rs746533896 | 5:74,892,499 | T/A | — | uncertain significance |
| rs151303145 | 5:74,892,523 | G/A | — | uncertain significance |
| rs863225455 | 5:74,892,551 | C/T | missense variant | pathogenic |
| rs2480226888 | 5:74,892,572 | A/G | — | uncertain significance |
| rs918775209 | 5:74,892,632 | A/C | — | uncertain significance |
| rs751025235 | 5:74,892,647 | C/G | stop gained | — |
| rs863225456 | 5:74,892,710 | T/A | missense variant | pathogenic |
| rs5744714 | 5:74,892,777 | C/T | — | benign |
| rs748352357 | 5:74,892,804 | A/G | — | likely benign |
| rs772307321 | 5:74,892,805 | T/C | missense variant | — |
| rs747097112 | 5:74,892,809 | G/A | — | uncertain significance |
| rs1472629829 | 5:74,892,901 | A/G | — | uncertain significance |
| rs1554064740 | 5:74,893,828 | T/G | — | pathogenic |
| rs786205688 | 5:74,893,909 | T/C | — | pathogenic |
| rs786205694 | 5:74,893,924 | T/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.