ADPRH
ADP-ribosylarginine hydrolase
Summary
The enzyme encoded by this gene catalyzes removal of mono-ADP-ribose from arginine residues of proteins in the ADP-ribosylation cycle. Unlike the rat and mouse enzymes that require DTT for maximal activity, the human enzyme is DTT-independent. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, May 2014]
Known Variants17 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12494369 | 3:119,297,121 | C/G | upstream gene variant | — |
| rs772786039 | 3:119,301,038 | A/T | — | uncertain significance |
| rs2473147098 | 3:119,301,207 | C/T | — | uncertain significance |
| rs149117576 | 3:119,301,255 | A/G | — | uncertain significance |
| rs192856664 | 3:119,301,258 | A/G | — | uncertain significance |
| rs1560068400 | 3:119,305,232 | G/A | — | uncertain significance |
| rs761010216 | 3:119,305,248 | G/C | — | uncertain significance |
| rs1444145370 | 3:119,305,251 | C/T | — | uncertain significance |
| rs189558030 | 3:119,305,312 | G/A | — | uncertain significance |
| rs748177318 | 3:119,305,323 | C/G | — | uncertain significance |
| rs773326745 | 3:119,306,357 | A/G | — | uncertain significance |
| rs944027206 | 3:119,306,414 | G/C | — | uncertain significance |
| rs147911198 | 3:119,306,441 | T/C | — | uncertain significance |
| rs199863749 | 3:119,306,482 | T/G | — | uncertain significance |
| rs756523263 | 3:119,306,495 | G/A | — | likely benign |
| rs2082475785 | 3:119,306,524 | G/T | — | uncertain significance |
| rs2473157151 | 3:119,306,528 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.