POLK Chromosome 5
DNA polymerase kappa
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What This Gene Does
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]
Gene Info
Gene Group
"DNA polymerases|Zinc fingers UBZ4 CCHC-type"
Locus Type
gene with protein product
Location
5q13.3
Ensembl
ENSG00000122008
Associated Conditions (3)
Prostate cancer
Neurodevelopmental delay
Seizure
Key Variants
RS148960463
Conflicting classifications of pathogenicity
Prostate cancer, Neurodevelopmental delay, Seizure
Health Risk
RS863225454
Conflicting classifications of pathogenicity
Prostate cancer, Prostate cancer
Health Risk
RS111584802
Pathogenic
Prostate cancer, Prostate cancer
Health Risk
RS1304454699
Pathogenic
Prostate cancer, Prostate cancer
Health Risk
RS139591993
Pathogenic
Prostate cancer, Prostate cancer
Health Risk
RS1554059550
Pathogenic
Prostate cancer, Prostate cancer
Health Risk
RS1554059573
Pathogenic
Prostate cancer, Prostate cancer
Health Risk
RS1554062741
Pathogenic
Prostate cancer, Prostate cancer
Health Risk
RS1554062789
Pathogenic
Prostate cancer, Prostate cancer
Health Risk
RS1554062804
Pathogenic
Prostate cancer, Prostate cancer
Health Risk
RS1554063600
Pathogenic
Prostate cancer, Prostate cancer
Health Risk
RS1554063656
Pathogenic
Prostate cancer, Prostate cancer
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148960463 | Health Risk | Conflicting classifications of pathogenicity | Prostate cancer, Neurodevelopmental delay, Seizure |
| RS863225454 | Health Risk | Conflicting classifications of pathogenicity | Prostate cancer, Prostate cancer |
| RS111584802 | Health Risk | Pathogenic | Prostate cancer, Prostate cancer |
| RS1304454699 | Health Risk | Pathogenic | Prostate cancer, Prostate cancer |
| RS139591993 | Health Risk | Pathogenic | Prostate cancer, Prostate cancer |
| RS1554059550 | Health Risk | Pathogenic | Prostate cancer, Prostate cancer |
| RS1554059573 | Health Risk | Pathogenic | Prostate cancer, Prostate cancer |
| RS1554062741 | Health Risk | Pathogenic | Prostate cancer, Prostate cancer |
| RS1554062789 | Health Risk | Pathogenic | Prostate cancer, Prostate cancer |
| RS1554062804 | Health Risk | Pathogenic | Prostate cancer, Prostate cancer |
| RS1554063600 | Health Risk | Pathogenic | Prostate cancer, Prostate cancer |
| RS1554063656 | Health Risk | Pathogenic | Prostate cancer, Prostate cancer |
| RS1554064175 | Health Risk | Pathogenic | Prostate cancer, Prostate cancer |
| RS1554064740 | Health Risk | Pathogenic | Prostate cancer, Prostate cancer |
| RS749804502 | Health Risk | Pathogenic | Prostate cancer, Prostate cancer |
| RS770984846 | Health Risk | Pathogenic | Prostate cancer, Prostate cancer |
| RS781194178 | Health Risk | Pathogenic | Prostate cancer, Prostate cancer |
| RS786205688 | Health Risk | Pathogenic | Prostate cancer, Prostate cancer |
| RS863225455 | Health Risk | Pathogenic | Prostate cancer, Prostate cancer |
| RS863225456 | Health Risk | Pathogenic | Prostate cancer, Prostate cancer |
| RS863225457 | Health Risk | Pathogenic | Prostate cancer, Prostate cancer |