XPO7

exportin 7

Summary

The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-16 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002]

Known Variants43 total

rsidPosition (GRCh37)AllelesClassClinVar
rs563170718:21,775,838G/Cregulatory region variant
rs614940248:21,776,681T/Aregulatory region variant
rs117780978:21,790,479T/A
rs581414078:21,791,772C/A
rs760081778:21,802,272C/G
rs78242448:21,802,432G/C
rs69986928:21,805,265T/Cintron variant
rs78215928:21,811,530C/Gintron variant
rs111357648:21,814,004A/Gintron variant
rs668240508:21,815,425T/Gintron variant
rs20547118:21,818,060A/Gregulatory region variant
rs1481395928:21,818,168T/Cregulatory region variant
rs78434798:21,820,813C/Aintron variant
rs587255938:21,823,173G/A
rs24865002498:21,827,058C/Guncertain significance
rs1898234068:21,827,704C/Tbenign
rs9728460288:21,827,793C/Tuncertain significance
rs101018818:21,830,158T/Cintron variant
rs170606858:21,830,295A/Gintron variant
rs1920207598:21,831,806C/Gintron variant
rs13672332038:21,833,898A/Guncertain significance
rs20029418:21,834,366A/T
rs7688980488:21,837,680T/Cuncertain significance
rs3736195588:21,839,337C/Guncertain significance
rs1170049368:21,841,033T/Cintron variant
rs7717987838:21,842,199G/Cuncertain significance
rs48722078:21,842,751G/Cregulatory region variant
rs8891308768:21,844,684G/Auncertain significance
rs7702554448:21,845,358A/Guncertain significance
rs7665309148:21,846,551A/Guncertain significance
rs3766057228:21,847,909C/Guncertain significance
rs7620503018:21,848,410G/Auncertain significance
rs1177611218:21,849,716T/Cintron variant
rs3686516468:21,851,918C/Guncertain significance
rs7611196098:21,851,937A/Cuncertain significance
rs5634665398:21,853,037A/Guncertain significance
rs24865735628:21,853,083A/Cuncertain significance
rs12869590638:21,856,683C/Guncertain significance
rs13690248278:21,857,125C/Guncertain significance
rs3773928788:21,862,573G/Auncertain significance
rs3707435268:21,862,580G/Auncertain significance
rs24865988968:21,862,582A/Guncertain significance
rs72208:21,863,290G/A3 prime UTR variant

Gene information from NCBI Gene. Variant classifications from ClinVar.