POLB
DNA polymerase beta
Summary
The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates to the nucleus upon DNA damage. Several transcript variants of this gene exist, but the full-length nature of only one has been described to date. [provided by RefSeq, Sep 2011]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3136717 | 8:42,196,441 | C/T | regulatory region variant | — |
| rs746694602 | 8:42,196,535 | G/T | — | uncertain significance |
| rs3136739 | 8:42,205,080 | A/G | upstream gene variant | — |
| rs3136744 | 8:42,207,347 | A/C | intron variant | — |
| rs750011729 | 8:42,210,071 | A/G | — | uncertain significance |
| rs987433185 | 8:42,213,049 | A/G | — | uncertain significance |
| rs2953983 | 8:42,213,256 | G/C | — | — |
| rs2488011051 | 8:42,214,872 | C/T | — | uncertain significance |
| rs767447109 | 8:42,218,835 | G/T | — | uncertain significance |
| rs745652653 | 8:42,218,860 | T/G | — | uncertain significance |
| rs3136797 | 8:42,226,805 | C/G | missense variant | — |
| rs1354301189 | 8:42,226,822 | A/G | — | uncertain significance |
| rs756393596 | 8:42,226,841 | G/T | — | uncertain significance |
| rs111370566 | 8:42,228,644 | A/G | downstream gene variant | — |
| rs1554538274 | 8:42,229,113 | G/A | — | uncertain significance |
| rs200653703 | 8:42,229,170 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.