ADPRHL1
ADP-ribosylhydrolase like 1
Summary
ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases (see ART1; MIM 601625) transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases, such as ADPRHL1, reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM, Mar 2008]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9549769 | 13:114,058,551 | T/C | — | uncertain significance |
| rs139448172 | 13:114,059,772 | G/A | — | likely benign |
| rs920223793 | 13:114,060,690 | C/T | — | likely benign |
| rs113429647 | 13:114,061,932 | G/T | — | likely benign |
| rs555614333 | 13:114,062,493 | G/A | — | likely benign |
| rs75578545 | 13:114,073,950 | C/T | downstream gene variant | — |
| rs1328103905 | 13:114,077,142 | T/C | — | uncertain significance |
| rs201451875 | 13:114,077,171 | G/A | — | uncertain significance |
| rs145187729 | 13:114,077,172 | C/T | — | likely benign |
| rs201873835 | 13:114,077,181 | C/A | — | uncertain significance |
| rs2501883835 | 13:114,077,192 | T/C | — | uncertain significance |
| rs2043936462 | 13:114,077,210 | T/C | — | uncertain significance |
| rs147753084 | 13:114,078,549 | C/T | — | uncertain significance |
| rs764921219 | 13:114,078,550 | G/A | — | uncertain significance |
| rs2043946942 | 13:114,078,568 | A/G | — | uncertain significance |
| rs80197449 | 13:114,078,593 | G/A | — | benign |
| rs1406284810 | 13:114,078,607 | T/C | — | uncertain significance |
| rs777992462 | 13:114,078,612 | G/T | — | uncertain significance |
| rs779414316 | 13:114,078,619 | G/T | — | uncertain significance |
| rs141769199 | 13:114,079,374 | C/T | — | uncertain significance |
| rs2501907744 | 13:114,083,299 | T/A | — | uncertain significance |
| rs2501907849 | 13:114,083,312 | G/T | — | uncertain significance |
| rs199692255 | 13:114,083,320 | C/T | — | uncertain significance |
| rs758114074 | 13:114,083,337 | C/G | — | uncertain significance |
| rs902922489 | 13:114,083,366 | C/T | — | uncertain significance |
| rs570992371 | 13:114,088,081 | G/A | — | uncertain significance |
| rs780743894 | 13:114,088,084 | C/T | — | uncertain significance |
| rs761645929 | 13:114,088,119 | C/T | — | uncertain significance |
| rs372476440 | 13:114,088,120 | G/A | — | uncertain significance |
| rs376266488 | 13:114,088,137 | C/T | — | uncertain significance |
| rs554803788 | 13:114,088,138 | G/A | — | uncertain significance |
| rs768500663 | 13:114,088,167 | G/A | — | uncertain significance |
| rs142667173 | 13:114,088,175 | C/A | — | likely benign |
| rs765759644 | 13:114,098,877 | C/T | — | uncertain significance |
| rs762019062 | 13:114,107,554 | C/T | — | uncertain significance |
| rs753598563 | 13:114,107,581 | T/G | — | uncertain significance |
| rs149499588 | 13:114,107,590 | C/T | — | uncertain significance |
| rs200853560 | 13:114,107,595 | C/T | — | likely benign |
| rs35745409 | 13:114,107,606 | C/T | — | benign |
| rs546248843 | 13:114,107,607 | G/A | — | uncertain significance |
| rs537275759 | 13:114,107,633 | G/A | — | likely benign |
| rs761364646 | 13:114,107,637 | C/T | — | uncertain significance |
| rs766088033 | 13:114,107,662 | T/G | — | uncertain significance |
| rs776092773 | 13:114,107,713 | C/T | — | uncertain significance |
| rs769398018 | 13:114,107,716 | C/T | — | uncertain significance |
| rs9577273 | 13:114,107,733 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.