ENPP1

ectonucleotide pyrophosphatase/phosphodiesterase 1

Summary

This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. Mutations in this gene have been associated with 'idiopathic' infantile arterial calcification, ossification of the posterior longitudinal ligament of the spine (OPLL), and insulin resistance. [provided by RefSeq, Jul 2008]

Known Variants602 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18009496:132,128,564C/G——
rs1158729506:132,128,840C/T—benign
rs1836013086:132,128,972T/C—likely benign
rs8666718426:132,129,116G/A—likely benign
rs1882914206:132,129,141G/T—likely benign
rs18009486:132,129,152G/C—likely benign
rs5352935746:132,129,163G/A—conflicting classifications of pathogenicity
rs7504108436:132,129,166C/T—conflicting classifications of pathogenicity
rs24833849516:132,129,176A/G—uncertain significance
rs17812998306:132,129,177T/C—uncertain significance
rs24833849736:132,129,181G/A—likely benign
rs9414740866:132,129,185G/A—uncertain significance
rs14048365846:132,129,188G/C—uncertain significance
rs8860610636:132,129,196G/T—uncertain significance
rs17813004686:132,129,201G/A—uncertain significance
rs7947269276:132,129,202C/G—conflicting classifications of pathogenicity
rs14160804946:132,129,209C/G—conflicting classifications of pathogenicity
rs14847688496:132,129,221G/A—uncertain significance
rs17813012916:132,129,230G/A—uncertain significance
rs9267684126:132,129,233C/T—uncertain significance
rs286204206:132,129,236C/T—uncertain significance
rs12792330956:132,129,262C/G—likely benign
rs24833853826:132,129,263G/T—uncertain significance
rs24833854106:132,129,273G/A—uncertain significance
rs9395238166:132,129,278C/T—uncertain significance
rs10570845286:132,129,280C/T—likely benign
rs21146433626:132,129,292G/T—likely benign
rs7632400086:132,129,293C/A—likely benign
rs5539291396:132,129,295C/T—likely benign
rs17813028436:132,129,300A/C—uncertain significance
rs13931103446:132,129,309C/A—uncertain significance
rs13777664706:132,129,311G/T—uncertain significance
rs12395691226:132,129,320T/A—uncertain significance
rs24833855856:132,129,324T/C—uncertain significance
rs7548660986:132,129,329C/T—conflicting classifications of pathogenicity
rs14083087646:132,129,330C/T—uncertain significance
rs13282077006:132,129,332A/G—uncertain significance
rs7680347456:132,129,340G/A—conflicting classifications of pathogenicity
rs10072882206:132,129,368C/G—uncertain significance
rs14678987066:132,129,372C/T—uncertain significance
rs10173852806:132,129,374C/G—uncertain significance
rs17813048276:132,129,375G/A—uncertain significance
rs12437983066:132,129,378C/A—uncertain significance
rs11674136846:132,129,383A/T—pathogenic
rs9016394956:132,129,385G/A—likely benign
rs14750502456:132,129,389C/T—uncertain significance
rs11631167996:132,129,394C/A—uncertain significance
rs17813055886:132,129,404G/A—uncertain significance
rs13206392306:132,129,411C/T—uncertain significance
rs13832111816:132,129,423C/T—likely benign
rs9398090096:132,129,435C/T—likely benign
rs9430036:132,141,012C/Tcoding sequence variant—
rs20219666:132,150,439A/Gupstream gene variant—
rs8583396:132,153,897T/Aupstream gene variant—
rs9975096:132,167,977C/Tintron variant—
rs591577276:132,168,778C/T—benign
rs14197289586:132,168,924A/G—likely benign
rs7598254116:132,168,925G/A—uncertain significance
rs24834561236:132,168,940A/G—uncertain significance
rs1885098616:132,168,948T/G—likely benign
rs3711326556:132,168,957A/G—uncertain significance
rs24834561756:132,168,968A/G—uncertain significance
rs24834561936:132,168,976T/C—uncertain significance
rs77734776:132,168,997G/T—benign
rs2022250186:132,168,998T/G—conflicting classifications of pathogenicity
rs7815390696:132,168,999G/T—conflicting classifications of pathogenicity
rs7484688316:132,169,001G/T—conflicting classifications of pathogenicity
rs7703523586:132,169,003G/T—conflicting classifications of pathogenicity
rs9932895796:132,169,004T/G—likely benign
rs9079573606:132,169,005G/T—likely benign
rs9406645776:132,169,007G/T—likely benign
rs793423986:132,170,784C/T—benign
rs1148687826:132,171,006C/G—likely benign
rs1132605156:132,171,066G/A—benign
rs24834596046:132,171,113T/C—likely benign
rs7475475696:132,171,114C/T—likely benign
rs13494015486:132,171,119A/G—likely benign
rs7639224866:132,171,139G/T—likely pathogenic
rs3724202176:132,171,144G/A—uncertain significance
rs13709130476:132,171,147C/T—uncertain significance
rs7498667876:132,171,148G/A—uncertain significance
rs3743797716:132,171,175G/C—likely pathogenic
rs7714050376:132,171,186G/A—uncertain significance
rs2012801426:132,171,189G/A—uncertain significance
rs24834597466:132,171,194T/A—likely pathogenic
rs17818614776:132,171,199A/T—uncertain significance
rs11636289006:132,171,229A/G—uncertain significance
rs7651154726:132,171,232C/T—uncertain significance
rs10424578666:132,171,235G/T—uncertain significance
rs3716954956:132,171,244C/G—uncertain significance
rs12280357226:132,171,249A/G—uncertain significance
rs24834598466:132,171,251G/C—uncertain significance
rs5420943536:132,171,259A/C—likely benign
rs7693107626:132,171,261G/A—likely benign
rs7541926966:132,171,263A/G—likely benign
rs12140363556:132,171,265A/G—likely benign
rs24834598956:132,171,266A/G—likely benign
rs769256556:132,172,187T/C—benign
rs24834614906:132,172,283A/T—uncertain significance
rs8666371836:132,172,287A/C—uncertain significance

Showing 100 of 602 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.