NUP153

nucleoporin 153

Summary

Nuclear pore complexes regulate the transport of macromolecules between the nucleus and cytoplasm. They are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. Nucleoporins are glycoproteins found in nuclear pores and contain characteristic pentapeptide XFXFG repeats as well as O-linked N-acetylglucosamine residues oriented towards the cytoplasm. The protein encoded by this gene has three distinct domains: a N-terminal region containing a pore targeting and an RNA-binding domain domain, a central region containing multiple zinc finger motifs, and a C-terminal region containing multiple XFXFG repeats. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]

Known Variants99 total

rsidPosition (GRCh37)AllelesClassClinVar
rs24812484986:17,616,364A/C—likely benign
rs1452999536:17,616,395A/G—uncertain significance
rs1449810096:17,616,405C/A—uncertain significance
rs17643424106:17,616,830G/A—uncertain significance
rs9511808226:17,616,846C/T—uncertain significance
rs7737772256:17,616,887T/C—uncertain significance
rs22283796:17,624,804T/C—benign
rs2002437876:17,624,849C/T—uncertain significance
rs10124193536:17,624,948C/A—uncertain significance
rs7507802116:17,625,001T/C—uncertain significance
rs3730527176:17,625,004G/A—uncertain significance
rs3754985746:17,626,057T/C—uncertain significance
rs7555799066:17,626,089G/A—uncertain significance
rs7570837326:17,626,092T/C—likely benign
rs9813739666:17,626,107C/T—uncertain significance
rs1473403536:17,626,166G/C—uncertain significance
rs17649286136:17,626,237C/T—uncertain significance
rs1506019526:17,626,281T/C—likely benign
rs13097083786:17,626,384C/T—uncertain significance
rs785413956:17,629,004T/C—benign
rs1442946306:17,629,059T/C—likely benign
rs617349006:17,629,091A/G—benign
rs1412597176:17,629,141C/T—uncertain significance
rs7608507096:17,629,143G/A—uncertain significance
rs22283786:17,629,172G/A—benign
rs17650890456:17,629,198T/G—uncertain significance
rs24812985046:17,629,201C/A—uncertain significance
rs1483837986:17,629,240T/C—uncertain significance
rs1465512096:17,629,272A/G—uncertain significance
rs7707862816:17,629,383T/C—uncertain significance
rs3765082816:17,629,393C/T—uncertain significance
rs3706752746:17,629,396C/G—uncertain significance
rs7569235076:17,629,413C/T—uncertain significance
rs1880370006:17,629,449G/C—uncertain significance
rs7722504816:17,629,554A/C—uncertain significance
rs7800522296:17,629,617G/A—uncertain significance
rs1411696606:17,629,629A/G—benign
rs1441284216:17,629,763G/C—uncertain significance
rs3741307346:17,632,904G/C—uncertain significance
rs3686091116:17,632,986C/T—uncertain significance
rs22741366:17,633,061C/Tmissense variant—
rs7765672206:17,637,401C/T—uncertain significance
rs7554805006:17,637,415A/G—likely benign
rs3762594986:17,637,461G/T—uncertain significance
rs2009727526:17,637,476T/C—uncertain significance
rs1446881866:17,637,566G/C—uncertain significance
rs5513652536:17,637,581C/T—uncertain significance
rs14522984506:17,637,590C/G—uncertain significance
rs9351515346:17,637,630T/C—likely benign
rs24813362486:17,637,688T/A—uncertain significance
rs13371869196:17,637,737C/A—uncertain significance
rs10351688306:17,637,765T/C—uncertain significance
rs1380507456:17,637,774C/T—uncertain significance
rs7493726076:17,637,809G/C—uncertain significance
rs1462843086:17,637,900T/C—uncertain significance
rs17656276276:17,637,919A/C—uncertain significance
rs5378770306:17,637,947G/C—uncertain significance
rs7613412176:17,637,975C/A—uncertain significance
rs617485746:17,637,979C/A—likely benign
rs5338408166:17,637,986T/C—uncertain significance
rs7584384476:17,637,996C/G—uncertain significance
rs22283776:17,640,187T/G—benign
rs14311424926:17,640,188C/A—uncertain significance
rs3711032196:17,640,283G/A—uncertain significance
rs1392749646:17,646,313T/C—uncertain significance
rs1500609136:17,646,360A/G—likely benign
rs1477533556:17,648,067T/C—uncertain significance
rs617560106:17,649,384G/A—benign
rs1479364756:17,649,419T/C—likely benign
rs1430832336:17,649,473G/A—uncertain significance
rs617560676:17,649,494G/A—likely benign
rs8910815836:17,649,501A/G—uncertain significance
rs25321352556:17,661,910C/A—uncertain significance
rs1426778736:17,662,261T/G—uncertain significance
rs13817032616:17,662,277G/T—uncertain significance
rs13946513916:17,665,516G/A—uncertain significance
rs2004064946:17,669,692T/A—uncertain significance
rs17677694216:17,669,770A/G—uncertain significance
rs3760310786:17,675,140T/C—uncertain significance
rs1998787586:17,675,216G/T—uncertain significance
rs3765077756:17,675,242A/C—uncertain significance
rs22283756:17,675,246T/Cmissense variant—
rs5563454306:17,675,555G/C—uncertain significance
rs7667116646:17,675,597T/C—uncertain significance
rs7462016036:17,675,903C/T—uncertain significance
rs7717713206:17,675,926T/C—uncertain significance
rs25321715006:17,675,929A/T—uncertain significance
rs9969694596:17,675,941T/C—uncertain significance
rs7649146946:17,675,956G/A—uncertain significance
rs93833116:17,687,112C/T——
rs3712632826:17,688,685C/G—uncertain significance
rs13796942486:17,688,689T/C—uncertain significance
rs1508477766:17,688,694G/A—benign
rs121992226:17,699,322G/Tintron variant—
rs617462266:17,706,524C/T—likely benign
rs3727544476:17,706,536G/A—uncertain significance
rs25322407326:17,706,553G/C—uncertain significance
rs7494822016:17,706,554T/A—uncertain significance
rs3696966296:17,706,569C/T—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.