NUP62

nucleoporin 62

Summary

The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins and is localized to the nuclear pore central plug. This protein associates with the importin alpha/beta complex which is involved in the import of proteins containing nuclear localization signals. Multiple transcript variants of this gene encode a single protein isoform. [provided by RefSeq, Jul 2008]

Known Variants155 total

rsidPosition (GRCh37)AllelesClassClinVar
rs89738857919:50,410,432G/A——
rs124853797619:50,411,518C/G—uncertain significance
rs75109044819:50,411,521C/T—uncertain significance
rs77943382619:50,411,540G/A—uncertain significance
rs106280019:50,411,545T/A—uncertain significance
rs207536867319:50,411,562C/G—uncertain significance
rs6174375719:50,411,582G/A—benign
rs76204153819:50,411,583C/G—likely benign
rs251475821519:50,411,620A/T—uncertain significance
rs74627437219:50,411,621T/A—uncertain significance
rs13991326419:50,411,629T/C—uncertain significance
rs251475842219:50,411,653A/G—uncertain significance
rs37626607219:50,411,670G/A—likely benign
rs207537166919:50,411,677G/A—uncertain significance
rs76038887019:50,411,678C/T—uncertain significance
rs14341259019:50,411,682G/A—likely benign
rs75555015619:50,411,699C/T—uncertain significance
rs212259152419:50,411,708C/T—uncertain significance
rs14674819419:50,411,727G/A—benign
rs37259726319:50,411,744C/T—uncertain significance
rs76153710419:50,411,777G/A—uncertain significance
rs105669260519:50,411,786C/T—uncertain significance
rs88741281219:50,411,806G/A—uncertain significance
rs74570529719:50,411,811G/A—likely benign
rs13876720419:50,411,829C/A—uncertain significance
rs77552616019:50,411,830T/C—uncertain significance
rs124827513619:50,411,833T/C—uncertain significance
rs160049660819:50,411,856C/T—likely benign
rs99345564919:50,411,889C/G—uncertain significance
rs12191786519:50,411,893T/Gmissense variantpathogenic
rs53828709219:50,411,895G/A—likely benign
rs127789745319:50,411,919C/T—likely benign
rs37492427819:50,411,931C/T—likely benign
rs75400674219:50,411,933C/T—uncertain significance
rs14397705519:50,411,935C/T—uncertain significance
rs251476062519:50,411,954T/C—uncertain significance
rs56443638019:50,411,967G/C—uncertain significance
rs20040157019:50,411,976G/A—likely benign
rs77590085219:50,411,977C/T—uncertain significance
rs75383035719:50,411,988G/A—likely benign
rs128673128619:50,412,017G/A—uncertain significance
rs14682818719:50,412,019C/T—uncertain significance
rs75869599019:50,412,020G/A—uncertain significance
rs77998827519:50,412,036C/T—likely benign
rs74806240119:50,412,072C/T—likely benign
rs37710883519:50,412,073G/A—uncertain significance
rs57401412319:50,412,074C/T—uncertain significance
rs1154726419:50,412,075G/A—likely benign
rs75059555519:50,412,100G/A—conflicting classifications of pathogenicity
rs75176527719:50,412,110C/T—uncertain significance
rs13926998519:50,412,113C/T—uncertain significance
rs251476175819:50,412,126T/A—likely benign
rs212259573219:50,412,130G/A—uncertain significance
rs77725391319:50,412,132G/A—likely benign
rs77053767619:50,412,138G/A—likely benign
rs76900423519:50,412,164C/T—uncertain significance
rs77686003519:50,412,165G/A—likely benign
rs37085261319:50,412,171C/T—likely benign
rs86752415919:50,412,172G/A—uncertain significance
rs251476223419:50,412,176G/A—likely benign
rs36774360019:50,412,201G/A—likely benign
rs75249536119:50,412,207G/A—likely benign
rs14427705419:50,412,223G/C—conflicting classifications of pathogenicity
rs14009107019:50,412,224T/C—uncertain significance
rs77829945419:50,412,227T/G—uncertain significance
rs11347306119:50,412,230C/T—benign
rs127106098919:50,412,233T/C—uncertain significance
rs19949898619:50,412,237G/C—likely benign
rs20033896419:50,412,238G/A—uncertain significance
rs14671549419:50,412,245C/T—conflicting classifications of pathogenicity
rs76768217419:50,412,246G/A—likely benign
rs156869987219:50,412,251A/G—uncertain significance
rs76389777719:50,412,254T/A—uncertain significance
rs20069051619:50,412,269C/T—uncertain significance
rs37217695219:50,412,270G/A—likely benign
rs19959528519:50,412,287C/A—uncertain significance
rs54684454519:50,412,295C/A—uncertain significance
rs106279719:50,412,300G/A—likely benign
rs251476355519:50,412,308T/A—uncertain significance
rs129074919:50,412,309C/G—benign
rs77647334619:50,412,316G/T—uncertain significance
rs37166590119:50,412,327C/T—likely benign
rs76593091619:50,412,328G/A—uncertain significance
rs100298216419:50,412,334G/T—uncertain significance
rs11322233119:50,412,361G/C—uncertain significance
rs15102275219:50,412,365T/C—uncertain significance
rs7973307619:50,412,392T/C—uncertain significance
rs53558775419:50,412,400A/G—uncertain significance
rs15009712619:50,412,402G/C—likely benign
rs55430867119:50,412,404G/A—uncertain significance
rs127085304619:50,412,411C/T—likely benign
rs212260065119:50,412,423G/T—likely benign
rs212260086419:50,412,439G/A—uncertain significance
rs76883241919:50,412,443G/C—uncertain significance
rs77104186819:50,412,470T/C—uncertain significance
rs251476504519:50,412,476C/T—uncertain significance
rs14696225819:50,412,483C/T—benign
rs76715580219:50,412,484G/A—uncertain significance
rs13920602719:50,412,490G/A—uncertain significance
rs138525844019:50,412,493G/C—uncertain significance

Showing 100 of 155 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.