NUP35

nucleoporin 35

Summary

This gene encodes a member of the nucleoporin family. The encoded protein contains two membrane binding regions, is localized to the nuclear rim, and is part of the nuclear pore complex. All molecules entering or leaving the nucleus either diffuse through or are actively transported by the nuclear pore complex. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 7 and 10. [provided by RefSeq, Dec 2013]

Known Variants17 total

rsidPosition (GRCh37)AllelesClassClinVar
rs17001190802:183,989,211A/Guncertain significance
rs11745058952:183,993,015G/Tuncertain significance
rs8893472882:183,993,107G/Auncertain significance
rs12259428832:183,995,220G/Auncertain significance
rs1431033952:183,995,225C/Guncertain significance
rs24684952902:184,016,238C/Auncertain significance
rs13293749882:184,016,275G/Auncertain significance
rs5378522472:184,016,281C/Tuncertain significance
rs5619936142:184,017,808A/C
rs13629791542:184,022,229C/Guncertain significance
rs7809636342:184,023,011A/Guncertain significance
rs7760843712:184,023,034G/Auncertain significance
rs12626820442:184,023,063C/Tuncertain significance
rs1436971172:184,023,135A/Cuncertain significance
rs1389922722:184,024,301C/Tuncertain significance
rs3677865522:184,024,331C/Tuncertain significance
rs5609674852:184,025,789C/Tuncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.