APEX1
apurinic/apyrimidinic endodeoxyribonuclease 1
Summary
The APEX gene encodes the major AP endonuclease in human cells. It encodes the APEX endonuclease, a DNA repair enzyme with apurinic/apyrimidinic (AP) activity. Such AP activity sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. The AP sites are the most frequent pre-mutagenic lesions that can prevent normal DNA replication. Splice variants have been found for this gene; all encode the same protein. Disruptions in the biological functions related to APEX are associated with many various malignancies and neurodegenerative diseases.[provided by RefSeq, Dec 2019]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1760944 | 14:20,923,149 | T/G | regulatory region variant | benign |
| rs3136814 | 14:20,923,297 | A/C | regulatory region variant | benign |
| rs41561214 | 14:20,923,416 | C/T | regulatory region variant | — |
| rs1309836140 | 14:20,923,841 | G/A | — | uncertain significance |
| rs778607554 | 14:20,923,851 | A/C | — | uncertain significance |
| rs745852498 | 14:20,924,148 | A/C | — | uncertain significance |
| rs2307486 | 14:20,924,204 | A/G | — | benign |
| rs17111967 | 14:20,924,325 | C/T | regulatory region variant | — |
| rs3136817 | 14:20,924,434 | T/C | upstream gene variant | benign |
| rs3136818 | 14:20,924,449 | T/A | — | benign |
| rs762384959 | 14:20,924,839 | G/C | — | not provided |
| rs140332883 | 14:20,924,883 | G/A | — | likely benign |
| rs1268308753 | 14:20,924,948 | C/T | — | uncertain significance |
| rs761265704 | 14:20,924,971 | G/A | — | uncertain significance |
| rs1594414820 | 14:20,925,006 | T/G | — | likely benign |
| rs371886058 | 14:20,925,013 | G/A | — | uncertain significance |
| rs104894987 | 14:20,925,151 | C/T | — | not provided |
| rs1130409 | 14:20,925,154 | T/G | missense variant | benign |
| rs747759495 | 14:20,925,155 | G/A | — | likely benign |
| rs780293860 | 14:20,925,206 | G/A | — | uncertain significance |
| rs33956927 | 14:20,925,431 | G/A | — | benign |
| rs1594415933 | 14:20,925,496 | T/C | — | likely benign |
| rs1065749 | 14:20,925,517 | T/C | — | benign |
| rs1414485166 | 14:20,925,653 | T/C | — | uncertain significance |
| rs61752835 | 14:20,925,655 | C/T | — | likely benign |
| rs17112002 | 14:20,925,669 | A/T | upstream gene variant | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.