NUP133

nucleoporin 133

Summary

The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. [provided by RefSeq, Jul 2008]

Known Variants222 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14718071881:229,577,673T/C—uncertain significance
rs4833527471:229,577,690C/G—uncertain significance
rs7744692041:229,577,702G/A—likely benign
rs7553251941:229,577,712T/C—uncertain significance
rs2009767891:229,577,717C/A—uncertain significance
rs12440860121:229,577,718T/G—uncertain significance
rs782526481:229,577,723G/A—likely benign
rs1814601981:229,577,724C/A—uncertain significance
rs1400858581:229,577,738C/T—benign
rs7603551461:229,577,739G/T—uncertain significance
rs9788043571:229,577,759C/T—likely benign
rs3740988451:229,577,762C/T—likely benign
rs7630314141:229,577,763G/A—uncertain significance
rs1477372391:229,577,791T/C—likely benign
rs14335130561:229,577,798A/T—pathogenic
rs1426406011:229,577,805A/C—likely benign
rs7644022611:229,580,686C/T—likely benign
rs1464801401:229,580,696A/G—uncertain significance
rs3685418131:229,580,741C/T—uncertain significance
rs776777671:229,584,911T/C—benign
rs15719048871:229,584,913G/C—uncertain significance
rs16603852171:229,584,944A/G—likely benign
rs7457829941:229,586,263T/G—likely benign
rs13951238981:229,586,277C/T—uncertain significance
rs7766469661:229,586,282T/C—uncertain significance
rs3764762661:229,586,288A/G—conflicting classifications of pathogenicity
rs1379746521:229,586,352G/A—likely benign
rs25274738371:229,586,369T/A—likely benign
rs355501401:229,588,273C/T—uncertain significance
rs13063277011:229,588,276A/G—uncertain significance
rs25274783801:229,588,291G/C—uncertain significance
rs7650433631:229,588,292T/C—uncertain significance
rs3675620071:229,588,299T/C—uncertain significance
rs3702403651:229,588,305C/T—likely benign
rs7514029961:229,588,306G/A—uncertain significance
rs1448375091:229,588,329C/T—likely benign
rs7463316401:229,588,372C/T—uncertain significance
rs25274785771:229,588,374C/T—likely benign
rs12005807661:229,588,407G/A—likely benign
rs5578709341:229,588,409G/A—benign
rs15580917881:229,593,966A/C—likely pathogenic
rs413077281:229,594,003C/T—benign
rs25274906751:229,594,034T/C—uncertain significance
rs1460666331:229,594,040G/A—uncertain significance
rs25274945921:229,596,362T/C—uncertain significance
rs12575310951:229,596,383T/C—uncertain significance
rs7753059961:229,596,409A/G—likely benign
rs7624068851:229,596,494C/T—uncertain significance
rs7467521611:229,596,515T/C—uncertain significance
rs2011401251:229,599,316G/A—uncertain significance
rs3702046081:229,599,324C/T—uncertain significance
rs5348104811:229,599,382T/C—uncertain significance
rs7795581391:229,599,385C/G—uncertain significance
rs7810343661:229,599,394A/C—uncertain significance
rs359447581:229,599,414C/T—likely benign
rs168497881:229,599,439A/C—benign
rs5659840901:229,600,436C/T—likely benign
rs7522422771:229,600,437G/A—uncertain significance
rs7558310301:229,600,443T/C—conflicting classifications of pathogenicity
rs9685593441:229,600,497T/A—uncertain significance
rs16607728661:229,600,506C/T—uncertain significance
rs1825829351:229,600,507C/G—benign
rs7736675401:229,600,510C/G—uncertain significance
rs7669054981:229,600,516G/A—likely benign
rs1391606841:229,600,521C/T—uncertain significance
rs3697611501:229,600,556G/C—uncertain significance
rs9867180771:229,600,560C/A—uncertain significance
rs2002670621:229,600,562T/C—uncertain significance
rs7687103921:229,600,567G/A—likely benign
rs1452869111:229,600,594C/T—likely benign
rs13896085071:229,600,627G/A—likely benign
rs5354812121:229,601,162A/G—uncertain significance
rs5372348191:229,601,169G/A—uncertain significance
rs16607897951:229,601,174T/C—likely benign
rs16607907791:229,601,221A/C—uncertain significance
rs2021638201:229,601,256T/C—uncertain significance
rs3718926181:229,602,361C/A—likely benign
rs7594660431:229,602,417C/G—uncertain significance
rs7754085471:229,602,423A/G—likely benign
rs1140329801:229,602,456C/T—likely benign
rs5587441121:229,602,457T/C—uncertain significance
rs3744132921:229,602,487G/A—uncertain significance
rs1488565351:229,602,488T/C—uncertain significance
rs16608361871:229,602,491C/T—uncertain significance
rs25275075251:229,602,496T/C—uncertain significance
rs21027624201:229,606,307T/G—likely benign
rs7668755481:229,606,357G/A—likely benign
rs7567957161:229,606,395T/G—uncertain significance
rs5697316591:229,606,404C/T—benign
rs2017488181:229,606,428G/A—uncertain significance
rs14013682751:229,606,432G/A—likely benign
rs25275149291:229,606,450A/G—likely benign
rs9478591191:229,606,489C/T—likely benign
rs1390187811:229,606,493C/T—uncertain significance
rs10499000311:229,606,500C/T—uncertain significance
rs3692166641:229,606,504C/T—likely benign
rs7809561631:229,606,529C/T—uncertain significance
rs25275151531:229,606,533G/A—likely benign
rs3693804831:229,611,376C/T—likely benign
rs1504063811:229,611,399C/T—uncertain significance

Showing 100 of 222 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.