APEX2
apurinic/apyrimidinic endodeoxyribonuclease 2
Summary
Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes a protein shown to have a weak class II AP endonuclease activity. Most of the encoded protein is located in the nucleus but some is also present in mitochondria. This protein may play an important role in both nuclear and mitochondrial base excision repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs61752442 | X:55,027,998 | C/T | — | benign |
| rs1301444460 | X:55,028,047 | C/T | — | uncertain significance |
| rs61752443 | X:55,028,691 | C/T | — | benign |
| rs2519563497 | X:55,028,756 | C/G | — | uncertain significance |
| rs2519563507 | X:55,028,782 | G/A | — | uncertain significance |
| rs764508954 | X:55,028,815 | C/T | — | uncertain significance |
| rs762024105 | X:55,028,818 | G/T | — | uncertain significance |
| rs2301416 | X:55,028,863 | C/T | — | likely benign |
| rs75862529 | X:55,029,451 | C/T | — | uncertain significance |
| rs371229749 | X:55,029,503 | G/T | — | uncertain significance |
| rs374229738 | X:55,030,245 | C/T | — | likely benign |
| rs192992600 | X:55,030,275 | A/G | — | uncertain significance |
| rs775731944 | X:55,033,027 | A/C | — | uncertain significance |
| rs145295903 | X:55,033,028 | T/A | — | uncertain significance |
| rs145122391 | X:55,033,116 | C/T | — | likely benign |
| rs149134407 | X:55,033,124 | C/A | — | uncertain significance |
| rs142257625 | X:55,033,146 | G/T | — | uncertain significance |
| rs6651872 | X:55,033,238 | A/G | — | benign |
| rs138407648 | X:55,033,290 | C/T | — | uncertain significance |
| rs1252392426 | X:55,033,430 | A/G | — | likely benign |
| rs138924876 | X:55,033,435 | G/A | — | likely benign |
| rs767858928 | X:55,033,569 | G/A | — | likely benign |
| rs200104735 | X:55,033,575 | A/G | — | likely benign |
| rs753975587 | X:55,033,582 | C/T | — | uncertain significance |
| rs139641675 | X:55,033,719 | G/A | — | conflicting classifications of pathogenicity |
| rs2519568141 | X:55,033,765 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.