NUDT9
nudix hydrolase 9
Summary
The protein encoded by this gene belongs to the Nudix hydrolase family. Nudix boxes are found in a family of diverse enzymes that catalyze the hydrolysis of nucleoside diphosphate derivatives. This enzyme is an ADP-ribose pyrophosphatase that catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. It requires divalent metal ions and an intact Nudix motif for enzymatic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs151296797 | 4:88,344,098 | C/G | — | uncertain significance |
| rs10030035 | 4:88,351,604 | T/C | intron variant | — |
| rs777504962 | 4:88,356,146 | T/A | — | uncertain significance |
| rs1402745793 | 4:88,356,161 | C/T | — | uncertain significance |
| rs775299708 | 4:88,356,171 | A/G | — | uncertain significance |
| rs2475818458 | 4:88,356,195 | C/A | — | uncertain significance |
| rs765252270 | 4:88,356,221 | C/T | — | uncertain significance |
| rs2475818702 | 4:88,356,230 | C/A | — | uncertain significance |
| rs568396393 | 4:88,356,276 | A/G | — | uncertain significance |
| rs753396128 | 4:88,359,429 | T/C | — | likely benign |
| rs28529046 | 4:88,361,716 | C/T | intron variant | — |
| rs2475849163 | 4:88,370,344 | A/G | — | uncertain significance |
| rs777933670 | 4:88,370,364 | G/T | — | uncertain significance |
| rs564186149 | 4:88,371,411 | C/G | — | — |
| rs769477258 | 4:88,372,850 | A/G | — | uncertain significance |
| rs763391106 | 4:88,375,557 | C/A | — | uncertain significance |
| rs2475864346 | 4:88,379,030 | G/C | — | uncertain significance |
| rs2475864420 | 4:88,379,054 | G/A | — | uncertain significance |
| rs1262799002 | 4:88,379,078 | C/T | — | uncertain significance |
| rs202181750 | 4:88,379,094 | C/G | — | uncertain significance |
| rs202206117 | 4:88,379,124 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.