NUP107

nucleoporin 107

Summary

This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

Known Variants251 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14662431412:69,080,458T/C—likely benign
rs14983815612:69,080,593G/C—likely benign
rs1283159112:69,080,616A/G—benign
rs225970212:69,080,728T/G—benign
rs249920398612:69,080,863G/A—likely benign
rs230304212:69,082,596G/A—benign
rs225959212:69,082,669A/G—benign
rs13930972412:69,082,794C/T—uncertain significance
rs76898737112:69,082,795G/A—uncertain significance
rs91554955412:69,082,796G/T—likely benign
rs225958812:69,082,805G/A—benign
rs20160947112:69,082,824A/G—likely benign
rs254650912:69,083,237A/G—benign
rs78107078212:69,083,295T/G—likely benign
rs75058982912:69,083,322C/T—uncertain significance
rs78166082212:69,083,354A/G—uncertain significance
rs13999119912:69,083,373G/A—uncertain significance
rs136894221712:69,083,378C/T—uncertain significance
rs147303486912:69,083,390C/T—pathogenic
rs249921074812:69,083,412G/T—likely benign
rs36976033812:69,083,418A/T—likely benign
rs1051947612:69,084,126T/C—benign
rs7145239912:69,084,272A/G—benign
rs20068050512:69,084,374G/T—likely benign
rs37282991512:69,084,398C/A—likely benign
rs77453107712:69,084,418A/G—likely benign
rs55135810512:69,084,426G/A—uncertain significance
rs249921333712:69,084,442G/C—conflicting classifications of pathogenicity
rs13841489112:69,084,480C/T—uncertain significance
rs75456750712:69,084,485C/T—pathogenic
rs37385564712:69,084,492C/T—uncertain significance
rs15125965512:69,084,493G/A—likely benign
rs77776375112:69,084,496G/A—likely benign
rs73088221612:69,084,526G/Amissense variantpathogenic
rs91832380812:69,084,528T/C—likely pathogenic
rs1160840412:69,084,541A/G—benign
rs270109012:69,084,732T/C—benign
rs5951358712:69,084,770G/A—benign
rs3441951212:69,085,485A/G—benign
rs75562624312:69,085,735G/A—likely benign
rs55951223912:69,085,738T/G—likely benign
rs19100265312:69,085,749T/A—uncertain significance
rs56361765412:69,085,796C/T—uncertain significance
rs3434777512:69,085,797G/A—likely benign
rs15043121312:69,085,801C/T—likely benign
rs37467303812:69,085,812C/G—uncertain significance
rs105025329512:69,085,831T/C—likely benign
rs75724263412:69,085,859G/A—uncertain significance
rs11453461212:69,085,868C/T—uncertain significance
rs78016420212:69,085,869G/A—uncertain significance
rs37329888512:69,085,870T/C—likely benign
rs249921797612:69,085,882T/C—likely benign
rs249921807912:69,085,908G/A—likely benign
rs14280835812:69,086,094T/C—likely benign
rs11344042212:69,086,192C/G—likely benign
rs14560213912:69,090,263T/C—likely benign
rs1117733512:69,090,349T/C—benign
rs14209597012:69,090,360G/A—likely benign
rs15114888212:69,090,454T/C—likely benign
rs75528884112:69,090,588A/T—likely benign
rs77845200412:69,090,595C/T—likely benign
rs86432163312:69,090,619G/Tmissense variantpathogenic
rs14689463212:69,090,636T/C—likely benign
rs13932679812:69,090,646T/C—conflicting classifications of pathogenicity
rs37114969012:69,090,651G/A—likely benign
rs14336417812:69,090,653G/A—uncertain significance
rs125463956212:69,090,664G/C—uncertain significance
rs14996002012:69,090,669T/C—benign
rs19008547312:69,090,678G/A—likely benign
rs3505484412:69,090,684A/G—likely benign
rs249923026212:69,090,691T/C—uncertain significance
rs270108812:69,090,754A/G—benign
rs254652712:69,090,803G/C—benign
rs78033815212:69,094,501T/C—uncertain significance
rs187628835512:69,094,504A/C—likely pathogenic
rs20137839912:69,094,519G/A—uncertain significance
rs77434616012:69,094,533C/T—likely pathogenic
rs117954486512:69,094,572A/G—uncertain significance
rs249893664812:69,094,579T/C—uncertain significance
rs3558997612:69,094,607A/G—likely benign
rs102005202012:69,094,629T/C—uncertain significance
rs75531785312:69,094,638T/C—uncertain significance
rs74885580212:69,094,642G/A—likely benign
rs18663568712:69,096,312T/C—likely benign
rs13999108212:69,096,398G/A—likely benign
rs14344974212:69,096,504A/G—benign
rs56044032712:69,096,544G/A—uncertain significance
rs91420763212:69,096,562A/G—uncertain significance
rs54649482712:69,096,575T/C—benign
rs187639654712:69,096,582T/G—likely benign
rs14025247612:69,096,814C/T—likely benign
rs11721063912:69,096,815A/G—likely benign
rs291010212:69,102,726T/C—benign
rs37480332912:69,103,003T/A—likely benign
rs6175606512:69,103,039A/T—likely benign
rs249894938412:69,103,044T/C—likely benign
rs76001545912:69,103,053G/A—likely benign
rs76806009012:69,103,078C/T—likely pathogenic
rs121954542712:69,103,092A/G—uncertain significance
rs57253165312:69,103,105A/T—likely benign

Showing 100 of 251 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.