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/Auncertain 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/Cuncertain significance
rs7760666116:34,360,123G/Auncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.