PARP1
poly(ADP-ribose) polymerase 1
Summary
This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved in the regulation of various important cellular processes such as differentiation, proliferation, and tumor transformation and also in the regulation of the molecular events involved in the recovery of cell from DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, and may participate in the pathophysiology of type I diabetes. [provided by RefSeq, Jul 2008]
Known Variants82 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs8679 | 1:226,548,554 | A/G | 3 prime UTR variant | — |
| rs2271347 | 1:226,549,498 | G/A | intron variant | — |
| rs765735901 | 1:226,549,717 | C/T | — | likely benign |
| rs751844182 | 1:226,549,736 | C/T | — | uncertain significance |
| rs3219145 | 1:226,550,829 | T/C | — | benign |
| rs747657 | 1:226,550,924 | G/C | intron variant | — |
| rs747658 | 1:226,551,178 | A/G | intron variant | — |
| rs752307 | 1:226,551,529 | C/G | intron variant | — |
| rs187041817 | 1:226,551,689 | T/C | — | uncertain significance |
| rs2528577702 | 1:226,552,762 | T/G | — | uncertain significance |
| rs1293883896 | 1:226,552,768 | T/G | — | likely benign |
| rs146042055 | 1:226,553,486 | C/G | — | — |
| rs34917861 | 1:226,553,490 | C/G | — | — |
| rs3219125 | 1:226,554,951 | T/C | intron variant | — |
| rs2528583899 | 1:226,555,245 | C/T | — | uncertain significance |
| rs1136410 | 1:226,555,302 | A/G | missense variant | benign |
| rs1805413 | 1:226,555,837 | G/A | intron variant | — |
| rs200978353 | 1:226,555,927 | C/T | — | likely benign |
| rs780595440 | 1:226,555,973 | C/T | — | uncertain significance |
| rs748421463 | 1:226,556,001 | C/T | — | uncertain significance |
| rs1664313584 | 1:226,556,016 | A/G | — | uncertain significance |
| rs3219119 | 1:226,556,443 | A/T | intron variant | — |
| rs3219104 | 1:226,562,621 | A/T | — | — |
| rs3219090 | 1:226,564,691 | T/C | intron variant | — |
| rs13306137 | 1:226,564,836 | G/A | — | benign |
| rs759705521 | 1:226,564,908 | G/T | — | uncertain significance |
| rs765336078 | 1:226,564,910 | A/G | — | uncertain significance |
| rs1401384730 | 1:226,564,958 | T/C | — | uncertain significance |
| rs751561930 | 1:226,565,003 | A/G | — | uncertain significance |
| rs907190 | 1:226,566,726 | A/T | — | — |
| rs2528609205 | 1:226,566,879 | T/C | — | uncertain significance |
| rs116547814 | 1:226,566,959 | C/T | — | benign |
| rs138072805 | 1:226,567,724 | C/A | — | uncertain significance |
| rs149332554 | 1:226,567,776 | C/A | — | uncertain significance |
| rs61731501 | 1:226,567,792 | G/A | — | likely benign |
| rs143814826 | 1:226,567,795 | G/A | — | likely benign |
| rs139399785 | 1:226,567,812 | G/T | — | likely benign |
| rs1805410 | 1:226,568,665 | T/C | intron variant | — |
| rs61731503 | 1:226,568,824 | G/A | — | benign |
| rs2528614911 | 1:226,568,838 | T/C | — | uncertain significance |
| rs1297670934 | 1:226,568,879 | G/A | — | uncertain significance |
| rs757155449 | 1:226,568,891 | A/G | — | uncertain significance |
| rs3219073 | 1:226,569,375 | G/C | intron variant | — |
| rs750176481 | 1:226,570,745 | G/A | — | uncertain significance |
| rs3219062 | 1:226,570,748 | G/T | — | likely benign |
| rs138576809 | 1:226,570,750 | G/C | — | likely benign |
| rs2230484 | 1:226,570,767 | G/A | — | likely benign |
| rs200129594 | 1:226,570,782 | A/G | — | uncertain significance |
| rs1805415 | 1:226,570,840 | T/A | missense variant | — |
| rs552938819 | 1:226,570,877 | C/T | — | uncertain significance |
| rs3219057 | 1:226,573,216 | C/T | — | likely benign |
| rs61750984 | 1:226,573,274 | G/A | — | benign |
| rs781235145 | 1:226,573,330 | C/T | — | likely benign |
| rs1805414 | 1:226,573,364 | A/T | synonymous variant | — |
| rs528782098 | 1:226,573,371 | C/T | — | uncertain significance |
| rs139232092 | 1:226,576,415 | G/A | — | likely benign |
| rs149927756 | 1:226,576,418 | A/G | — | likely benign |
| rs912573046 | 1:226,578,165 | G/A | — | uncertain significance |
| rs1805409 | 1:226,578,166 | C/T | — | benign |
| rs1039658611 | 1:226,578,174 | C/T | — | uncertain significance |
| rs1167211720 | 1:226,578,207 | G/C | — | uncertain significance |
| rs144252227 | 1:226,578,246 | C/A | — | uncertain significance |
| rs2528638896 | 1:226,578,256 | A/G | — | uncertain significance |
| rs772993780 | 1:226,578,261 | C/T | — | uncertain significance |
| rs757712451 | 1:226,578,291 | G/A | — | uncertain significance |
| rs1664805479 | 1:226,578,301 | T/C | — | uncertain significance |
| rs139924814 | 1:226,579,932 | T/C | — | uncertain significance |
| rs61750986 | 1:226,579,963 | A/G | — | benign |
| rs1805405 | 1:226,580,021 | G/T | — | benign |
| rs2666428 | 1:226,589,709 | C/T | intron variant | — |
| rs1805404 | 1:226,589,958 | G/C | missense variant | — |
| rs375440192 | 1:226,590,042 | G/T | — | uncertain significance |
| rs112308271 | 1:226,590,084 | G/C | — | likely benign |
| rs114243632 | 1:226,591,492 | T/C | regulatory region variant | — |
| rs2695243 | 1:226,593,141 | A/C | regulatory region variant | — |
| rs2048426 | 1:226,594,301 | C/T | regulatory region variant | — |
| rs767731025 | 1:226,595,534 | G/A | — | uncertain significance |
| rs201256399 | 1:226,595,617 | G/C | — | likely benign |
| rs907187 | 1:226,595,647 | C/T | — | — |
| rs2077197 | 1:226,596,039 | C/T | regulatory region variant | — |
| rs7527192 | 1:226,596,079 | C/T | regulatory region variant | — |
| rs2793379 | 1:226,596,686 | T/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.