APLF
aprataxin and PNKP like factor
Summary
Enables several functions, including ADP-D-ribose modification-dependent protein binding activity; nuclease activity; and poly-ADP-D-ribose binding activity. Involved in DNA repair; DNA repair-dependent chromatin remodeling; and protein localization to chromatin. Located in nucleoplasm. Is active in site of double-strand break. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs116640044 | 2:68,694,364 | C/T | regulatory region variant | — |
| rs1324096801 | 2:68,694,892 | G/T | — | uncertain significance |
| rs1472024278 | 2:68,694,938 | C/G | — | uncertain significance |
| rs770512397 | 2:68,717,385 | A/G | — | uncertain significance |
| rs377751152 | 2:68,729,894 | C/T | — | uncertain significance |
| rs757332939 | 2:68,729,915 | C/T | — | uncertain significance |
| rs1676762958 | 2:68,729,938 | T/C | — | uncertain significance |
| rs200032355 | 2:68,729,989 | C/T | — | likely benign |
| rs202065445 | 2:68,729,990 | G/A | — | uncertain significance |
| rs367820439 | 2:68,740,252 | A/T | — | uncertain significance |
| rs759715913 | 2:68,740,270 | A/T | — | uncertain significance |
| rs2466096909 | 2:68,740,309 | G/A | — | uncertain significance |
| rs964128558 | 2:68,740,316 | G/T | — | uncertain significance |
| rs145654399 | 2:68,740,695 | A/G | — | uncertain significance |
| rs757705042 | 2:68,740,714 | A/G | — | uncertain significance |
| rs148022399 | 2:68,740,735 | G/A | — | uncertain significance |
| rs776465127 | 2:68,740,768 | A/G | — | uncertain significance |
| rs558767335 | 2:68,740,788 | C/G | — | uncertain significance |
| rs190855339 | 2:68,743,148 | A/T | intron variant | — |
| rs761151749 | 2:68,753,210 | A/G | — | uncertain significance |
| rs1670040382 | 2:68,753,324 | G/A | — | uncertain significance |
| rs2465840326 | 2:68,753,325 | G/A | — | uncertain significance |
| rs2465861056 | 2:68,765,089 | C/T | — | uncertain significance |
| rs181345434 | 2:68,765,093 | A/G | — | uncertain significance |
| rs200295484 | 2:68,765,196 | G/C | — | uncertain significance |
| rs1209828102 | 2:68,765,215 | A/G | — | uncertain significance |
| rs1670446692 | 2:68,765,239 | C/T | — | uncertain significance |
| rs1028380032 | 2:68,772,386 | G/C | — | uncertain significance |
| rs2465875694 | 2:68,772,432 | C/T | — | uncertain significance |
| rs116704384 | 2:68,772,437 | T/C | — | uncertain significance |
| rs560951620 | 2:68,797,847 | C/T | — | — |
| rs755054178 | 2:68,804,967 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.