ALKBH2
alkB homolog 2, alpha-ketoglutarate dependent dioxygenase
Summary
The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 and ALKBH3 (MIM 610603) are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs373220366 | 12:109,526,037 | G/A | — | uncertain significance |
| rs1023585578 | 12:109,526,051 | A/G | — | uncertain significance |
| rs142477859 | 12:109,526,067 | C/T | — | likely benign |
| rs760428592 | 12:109,526,108 | G/A | — | uncertain significance |
| rs144639687 | 12:109,526,112 | G/C | — | uncertain significance |
| rs778218408 | 12:109,526,140 | G/A | — | likely benign |
| rs150621218 | 12:109,526,201 | T/C | — | uncertain significance |
| rs2499952144 | 12:109,526,270 | C/T | — | uncertain significance |
| rs2499959083 | 12:109,527,832 | T/G | — | uncertain significance |
| rs371845082 | 12:109,527,869 | G/A | — | uncertain significance |
| rs143430599 | 12:109,527,940 | G/C | — | uncertain significance |
| rs533548376 | 12:109,530,386 | T/C | — | uncertain significance |
| rs2499967412 | 12:109,530,444 | C/T | — | uncertain significance |
| rs2499968569 | 12:109,530,560 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.