OGG1
8-oxoguanine DNA glycosylase
Summary
This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. [provided by RefSeq, Aug 2008]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs159153 | 3:9,789,875 | T/C | upstream gene variant | — |
| rs125701 | 3:9,790,478 | G/A | upstream gene variant | — |
| rs761089529 | 3:9,792,098 | A/T | — | uncertain significance |
| rs939255450 | 3:9,792,100 | T/C | — | uncertain significance |
| rs104893751 | 3:9,792,107 | G/A | missense variant | pathogenic |
| rs201668327 | 3:9,792,665 | A/T | — | likely benign |
| rs2077275389 | 3:9,792,687 | C/G | — | uncertain significance |
| rs769664060 | 3:9,792,784 | A/G | — | uncertain significance |
| rs1200265804 | 3:9,792,819 | T/C | — | uncertain significance |
| rs377605863 | 3:9,792,822 | C/T | — | uncertain significance |
| rs773189203 | 3:9,792,843 | T/C | — | likely benign |
| rs371071998 | 3:9,793,469 | G/T | — | uncertain significance |
| rs530957311 | 3:9,793,474 | G/A | — | uncertain significance |
| rs752330449 | 3:9,793,514 | A/G | — | uncertain significance |
| rs144249605 | 3:9,793,597 | A/T | — | uncertain significance |
| rs3219008 | 3:9,795,543 | A/G | downstream gene variant | — |
| rs754929964 | 3:9,796,400 | A/G | — | uncertain significance |
| rs2471601646 | 3:9,796,468 | C/A | — | uncertain significance |
| rs2075747 | 3:9,797,723 | G/A | downstream gene variant | — |
| rs2072668 | 3:9,798,140 | C/G | downstream gene variant | — |
| rs571850004 | 3:9,798,206 | G/T | — | uncertain significance |
| rs376666435 | 3:9,798,463 | G/A | — | uncertain significance |
| rs113561019 | 3:9,798,475 | G/A | — | likely benign |
| rs756363791 | 3:9,798,507 | G/A | — | likely benign |
| rs3219013 | 3:9,798,740 | T/C | — | benign |
| rs1052133 | 3:9,798,773 | C/G | downstream gene variant | benign |
| rs1180868926 | 3:9,798,779 | A/G | — | likely benign |
| rs777473251 | 3:9,798,780 | T/C | — | likely benign |
| rs551965289 | 3:9,798,797 | C/T | — | uncertain significance |
| rs908121043 | 3:9,798,802 | C/T | — | uncertain significance |
| rs293795 | 3:9,799,113 | A/G | intron variant | — |
| rs2304277 | 3:9,801,080 | G/C | — | — |
| rs41276495 | 3:9,807,587 | G/A | — | likely benign |
| rs756959576 | 3:9,807,619 | C/T | — | likely benign |
| rs747025659 | 3:9,807,742 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.