NUDT3

nudix hydrolase 3

Summary

NUDT3 belongs to the MutT, or Nudix, protein family. Nudix proteins act as homeostatic checkpoints at important stages in nucleoside phosphate metabolic pathways, guarding against elevated levels of potentially dangerous intermediates, like 8-oxo-dGTP, which promotes AT-to-CG transversions (Safrany et al., 1998 [PubMed 9822604]).[supplied by OMIM, Feb 2011]

Known Variants15 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14319973636:34,256,538T/A—uncertain significance
rs37985566:34,294,006G/Cintron variant—
rs1155468686:34,297,585C/Tintron variant—
rs2069366:34,302,869A/Gregulatory region variant—
rs77754976:34,305,251C/Tintron variant—
rs22370986:34,305,897C/G——
rs4645536:34,315,079G/C——
rs1835785866:34,321,061T/Cintron variant—
rs1931350276:34,329,768T/Cintron variant—
rs119679096:34,329,804T/Cintron variant—
rs77384456:34,330,272A/Cintron variant—
rs2069256:34,339,982T/G——
rs2069206:34,349,799A/Gintron variant—
rs5471009946:34,360,075G/C—uncertain significance
rs7760666116:34,360,123G/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.