NUP88

nucleoporin 88

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, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]

Known Variants80 total

rsidPosition (GRCh37)AllelesClassClinVar
rs36877230017:5,289,533T/A—uncertain significance
rs1120917:5,289,580A/G—benign
rs107170517:5,290,033T/C—benign
rs20189775217:5,290,058C/T—uncertain significance
rs120409975817:5,290,118T/G—uncertain significance
rs14878661617:5,290,307T/G—uncertain significance
rs250762068517:5,290,337A/T—uncertain significance
rs37673099117:5,290,371C/T—uncertain significance
rs250762086617:5,290,403G/C—uncertain significance
rs6175611717:5,290,414G/A—likely benign
rs73976717:5,290,681A/C—benign
rs73976817:5,290,703G/A—benign
rs90658753217:5,290,734T/C—uncertain significance
rs77496732617:5,290,760C/G—uncertain significance
rs20114114617:5,290,773C/T—uncertain significance
rs37074148417:5,290,796T/C—likely benign
rs74848617:5,290,824C/A—benign
rs119381476517:5,290,938A/G—uncertain significance
rs14976066217:5,291,126T/C—likely benign
rs19956421617:5,291,130G/C—uncertain significance
rs250762382517:5,291,177A/C—uncertain significance
rs19992758717:5,291,196G/C—uncertain significance
rs78152402417:5,291,199G/A—uncertain significance
rs18365425517:5,291,260C/T—likely benign
rs57392310917:5,292,148A/G—likely benign
rs75559650517:5,292,149C/T—uncertain significance
rs76791709317:5,292,150G/A—uncertain significance
rs180622917:5,292,191G/A—likely benign
rs37316569317:5,292,207G/A—uncertain significance
rs77407009217:5,292,240G/A—pathogenic
rs76786448717:5,292,255G/A—uncertain significance
rs6175310417:5,292,262C/T—benign
rs54463938517:5,292,263G/A—uncertain significance
rs180623017:5,292,275G/A—likely benign
rs54596824417:5,294,743A/G——
rs14071962517:5,294,947G/A—uncertain significance
rs1423117:5,294,976T/A—benign
rs5835192717:5,297,038A/Gintron variant—
rs7283788417:5,297,472C/Tintron variant—
rs250763571217:5,298,203G/C—likely benign
rs14753302917:5,298,288C/T—likely benign
rs156756821717:5,298,293C/A—pathogenic
rs180624017:5,298,320C/T—benign
rs135456050917:5,302,899G/A—uncertain significance
rs37471568617:5,307,439C/G—uncertain significance
rs97935319917:5,307,451G/C—uncertain significance
rs103106669717:5,307,466T/C—uncertain significance
rs37094882517:5,307,494G/A—uncertain significance
rs159732504717:5,307,515A/C—uncertain significance
rs11648859417:5,308,369G/T—benign
rs18124927917:5,308,411A/G—benign
rs13924372117:5,308,438G/A—uncertain significance
rs76251123417:5,308,463C/T—uncertain significance
rs180624617:5,309,711T/A——
rs20169483217:5,312,046A/T—likely benign
rs191364466517:5,312,056T/G—uncertain significance
rs123070604217:5,312,155G/A—uncertain significance
rs56161946817:5,312,216C/T—uncertain significance
rs77009236017:5,312,224G/A—uncertain significance
rs75013259317:5,314,029T/C—uncertain significance
rs191379196117:5,314,078T/A—uncertain significance
rs76997445617:5,314,089G/A—uncertain significance
rs14215094317:5,317,337G/A—uncertain significance
rs250767014817:5,317,353A/C—uncertain significance
rs14712036317:5,317,360C/T—likely benign
rs74562219217:5,317,381T/A—uncertain significance
rs14399414517:5,317,417T/C—uncertain significance
rs180626317:5,317,492C/A—benign
rs36836594617:5,319,845G/A—uncertain significance
rs76768645417:5,319,869G/C—uncertain significance
rs14418393317:5,319,984G/C—uncertain significance
rs37264199217:5,322,724G/A—uncertain significance
rs191445173617:5,322,732A/G—uncertain significance
rs180626817:5,322,778C/T—uncertain significance
rs11282324417:5,322,792A/G—likely benign
rs76410463217:5,322,844C/T—uncertain significance
rs75352586417:5,322,846G/A—uncertain significance
rs20207027617:5,322,870T/C—uncertain significance
rs77834974617:5,322,951G/A—likely benign
rs15099466017:5,322,955C/T—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.