TDP2
tyrosyl-DNA phosphodiesterase 2
Summary
This gene encodes a member of a superfamily of divalent cation-dependent phosphodiesterases. The encoded protein associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor associated factors (TRAFs), and inhibits nuclear factor-kappa-B activation. This protein has sequence and structural similarities with APE1 endonuclease, which is involved in both DNA repair and the activation of transcription factors. [provided by RefSeq, Jul 2008]
Known Variants50 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs143559471 | 6:24,651,032 | A/G | — | uncertain significance |
| rs367700182 | 6:24,651,060 | T/C | — | uncertain significance |
| rs143596142 | 6:24,651,061 | A/C | — | likely benign |
| rs199528335 | 6:24,651,071 | C/T | — | uncertain significance |
| rs758067744 | 6:24,651,153 | T/G | — | uncertain significance |
| rs1777963326 | 6:24,651,155 | C/T | — | uncertain significance |
| rs142438588 | 6:24,651,156 | G/A | — | pathogenic |
| rs77273535 | 6:24,651,186 | T/C | — | benign |
| rs758350133 | 6:24,651,245 | A/C | — | uncertain significance |
| rs2534104475 | 6:24,651,255 | A/G | — | uncertain significance |
| rs762485056 | 6:24,653,245 | A/G | — | uncertain significance |
| rs1396365352 | 6:24,653,246 | T/C | — | likely benign |
| rs1198481964 | 6:24,653,287 | A/T | — | uncertain significance |
| rs375948102 | 6:24,653,314 | G/A | — | uncertain significance |
| rs149606674 | 6:24,653,370 | T/G | — | likely benign |
| rs374270370 | 6:24,653,386 | A/G | — | likely benign |
| rs1209809150 | 6:24,654,716 | G/A | — | uncertain significance |
| rs769599954 | 6:24,658,042 | G/A | — | uncertain significance |
| rs139153310 | 6:24,658,056 | A/G | — | likely benign |
| rs2532241288 | 6:24,658,068 | C/G | — | uncertain significance |
| rs372245668 | 6:24,658,788 | C/T | splice region variant | pathogenic |
| rs754787459 | 6:24,658,808 | C/A | — | uncertain significance |
| rs377119756 | 6:24,658,814 | G/A | — | pathogenic |
| rs747139051 | 6:24,658,817 | C/T | — | uncertain significance |
| rs1562148727 | 6:24,658,825 | G/C | — | pathogenic |
| rs1439964797 | 6:24,658,842 | T/G | — | uncertain significance |
| rs61757564 | 6:24,658,948 | T/C | — | likely benign |
| rs2143340 | 6:24,659,071 | A/G | regulatory region variant | — |
| rs114696086 | 6:24,666,503 | T/C | regulatory region variant | — |
| rs149428824 | 6:24,666,726 | A/T | regulatory region variant | — |
| rs769270221 | 6:24,666,769 | G/A | — | uncertain significance |
| rs1778243628 | 6:24,666,779 | C/T | — | uncertain significance |
| rs1021778454 | 6:24,666,791 | C/T | — | uncertain significance |
| rs1440189135 | 6:24,666,796 | G/A | — | uncertain significance |
| rs2532258654 | 6:24,666,824 | A/G | — | uncertain significance |
| rs190332937 | 6:24,666,825 | G/A | — | likely benign |
| rs35744230 | 6:24,666,830 | C/T | — | likely benign |
| rs2532258944 | 6:24,666,943 | T/G | — | uncertain significance |
| rs758697778 | 6:24,666,947 | G/A | — | likely benign |
| rs368460491 | 6:24,666,980 | G/A | — | likely benign |
| rs760554150 | 6:24,666,994 | C/A | — | uncertain significance |
| rs146127613 | 6:24,667,009 | G/C | — | likely benign |
| rs151213624 | 6:24,667,016 | C/T | — | likely benign |
| rs534169765 | 6:24,667,037 | G/A | — | uncertain significance |
| rs762016194 | 6:24,667,073 | G/A | — | likely benign |
| rs61760186 | 6:24,667,074 | C/A | — | likely benign |
| rs142424556 | 6:24,667,082 | C/T | — | benign |
| rs770844602 | 6:24,667,087 | C/A | — | pathogenic |
| rs369863568 | 6:24,667,099 | C/T | — | likely benign |
| rs17243143 | 6:24,667,586 | A/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.