NEIL2
nei like DNA glycosylase 2
Summary
This gene encodes a member of the Fpg/Nei family of DNA glycosylases. These glycosylases initiate the first step in base excision repair by cleaving oxidatively damaged bases and introducing a DNA strand break via their abasic site lyase activity. This enzyme is primarily associated with DNA repair during transcription and acts prefentially on cytosine-derived lesions, particularly 5-hydroxyuracil and 5-hydroxycytosine. It contains an N-terminal catalytic domain, a hinge region, and a C-terminal DNA-binding domain with helix-two-turn-helix and zinc finger motifs. This enzyme interacts with the X-ray cross complementing factor 1 scaffold protein as part of a multi-protein DNA repair complex. A pseudogene of this gene has been identified. [provided by RefSeq, Mar 2017]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs55865839 | 8:11,625,372 | A/G | — | — |
| rs804271 | 8:11,627,214 | C/G | — | — |
| rs804270 | 8:11,627,621 | G/T | — | — |
| rs371873253 | 8:11,628,971 | G/A | — | likely benign |
| rs142586380 | 8:11,629,017 | C/G | — | uncertain significance |
| rs150931138 | 8:11,629,033 | G/C | — | uncertain significance |
| rs139439505 | 8:11,629,059 | G/A | — | uncertain significance |
| rs35833462 | 8:11,629,070 | G/A | — | benign |
| rs772916971 | 8:11,629,085 | G/C | — | uncertain significance |
| rs1803444493 | 8:11,629,090 | C/G | — | uncertain significance |
| rs804264 | 8:11,630,429 | C/A | intron variant | — |
| rs144490474 | 8:11,632,496 | G/A | intron variant | — |
| rs35400293 | 8:11,637,173 | C/G | — | likely benign |
| rs756979497 | 8:11,637,189 | C/T | — | likely benign |
| rs8191612 | 8:11,637,275 | C/T | — | benign |
| rs376111476 | 8:11,637,294 | C/T | — | uncertain significance |
| rs765995054 | 8:11,637,305 | G/T | — | uncertain significance |
| rs144176325 | 8:11,637,336 | C/T | — | uncertain significance |
| rs935317810 | 8:11,637,358 | G/T | — | uncertain significance |
| rs2486141418 | 8:11,637,365 | G/C | — | uncertain significance |
| rs757752761 | 8:11,637,388 | C/T | — | likely benign |
| rs760384701 | 8:11,637,420 | A/C | — | uncertain significance |
| rs529862780 | 8:11,637,423 | C/T | — | uncertain significance |
| rs548048744 | 8:11,637,430 | G/T | — | uncertain significance |
| rs779165594 | 8:11,637,443 | A/G | — | uncertain significance |
| rs6601606 | 8:11,638,244 | A/G | intron variant | — |
| rs781186952 | 8:11,640,729 | G/A | — | uncertain significance |
| rs373334374 | 8:11,640,738 | G/A | — | uncertain significance |
| rs747033715 | 8:11,640,786 | T/A | — | uncertain significance |
| rs1347324504 | 8:11,640,794 | C/G | — | uncertain significance |
| rs754841831 | 8:11,640,828 | G/A | — | uncertain significance |
| rs112549959 | 8:11,640,853 | C/T | — | benign |
| rs968421309 | 8:11,640,872 | T/C | — | uncertain significance |
| rs774690430 | 8:11,640,891 | G/C | — | uncertain significance |
| rs762078262 | 8:11,640,902 | G/A | — | uncertain significance |
| rs201377798 | 8:11,643,499 | A/G | — | uncertain significance |
| rs566694214 | 8:11,643,508 | G/A | — | uncertain significance |
| rs371841681 | 8:11,643,514 | A/G | — | uncertain significance |
| rs138259101 | 8:11,643,528 | G/A | — | uncertain significance |
| rs148057216 | 8:11,643,550 | G/T | — | uncertain significance |
| rs8191666 | 8:11,643,693 | C/A | — | benign |
| rs201996408 | 8:11,643,728 | C/G | — | uncertain significance |
| rs145018337 | 8:11,643,730 | C/T | — | uncertain significance |
| rs113110839 | 8:11,643,731 | G/A | — | benign |
| rs148791384 | 8:11,643,742 | C/A | — | uncertain significance |
| rs745588492 | 8:11,643,767 | G/T | — | uncertain significance |
| rs1804941347 | 8:11,643,778 | C/G | — | uncertain significance |
| rs804292 | 8:11,643,915 | G/A | upstream gene variant | — |
| rs4639 | 8:11,644,751 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.