KPNA7

karyopherin subunit alpha 7

Summary

The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import, but exhibits different nuclear localization signal binding specificity compared to other members of the family. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Jul 2016]

Known Variants432 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1833609247:98,753,732A/Gintergenic variant—
rs92971457:98,759,117C/Aintergenic variant—
rs78097997:98,760,504G/T——
rs21506923957:98,771,336T/G—uncertain significance
rs13312037187:98,771,343T/C—likely benign
rs5702109247:98,771,349T/C—benign
rs3675918767:98,771,351C/T—uncertain significance
rs5375329507:98,771,352A/G—likely benign
rs21506924297:98,771,358T/C—uncertain significance
rs13976610127:98,771,373T/C—likely benign
rs7749474207:98,771,375G/A—uncertain significance
rs3746392257:98,771,376G/T—uncertain significance
rs15842539957:98,771,382G/A—likely benign
rs9647684707:98,771,395A/G—uncertain significance
rs9761792067:98,771,400T/C—likely benign
rs1489882637:98,771,409A/G—likely benign
rs25353188817:98,771,412T/C—likely benign
rs21506925427:98,771,417C/T—uncertain significance
rs7611589687:98,771,423G/A—likely benign
rs7599785577:98,771,428G/C—likely benign
rs9670972697:98,771,431T/C—likely benign
rs3746745317:98,771,436A/T—benign
rs47274277:98,772,439A/Tintron variant—
rs102746407:98,773,936G/A——
rs7800287527:98,775,523C/T—likely benign
rs2006035247:98,775,525C/T—benign
rs7548460157:98,775,526G/A—likely benign
rs7767296797:98,775,560C/T—uncertain significance
rs12016876687:98,775,566T/C—uncertain significance
rs25353447297:98,775,567G/T—uncertain significance
rs13597721437:98,775,570C/T—likely benign
rs13717801737:98,775,576C/T—likely benign
rs9718607017:98,775,583C/A—uncertain significance
rs5766922727:98,775,584C/T—uncertain significance
rs14229475267:98,775,587T/C—uncertain significance
rs1816548767:98,775,592C/T—likely benign
rs5653596587:98,775,593G/A—uncertain significance
rs17989792757:98,775,599C/A—uncertain significance
rs14212407137:98,775,601T/C—uncertain significance
rs13882272447:98,775,603C/A—likely benign
rs13161457097:98,775,605G/T—uncertain significance
rs9520232387:98,775,624A/G—likely benign
rs8922523527:98,775,627G/A—likely benign
rs15842598287:98,775,633A/C—likely benign
rs3714841177:98,775,639T/C—likely benign
rs21507007547:98,775,647T/G—uncertain significance
rs15842598597:98,775,650G/A—likely benign
rs7501346807:98,775,654A/C—uncertain significance
rs5447125987:98,775,656A/G—uncertain significance
rs13472953437:98,775,657C/T—likely benign
rs7761870847:98,775,659G/A—likely benign
rs7563898907:98,775,660G/C—uncertain significance
rs7609156917:98,775,674A/G—uncertain significance
rs7645489167:98,775,676C/T—uncertain significance
rs2019613797:98,775,677G/A—uncertain significance
rs10054082547:98,775,678T/C—likely benign
rs13133753907:98,775,685G/A—uncertain significance
rs3758913227:98,775,687C/T—likely benign
rs2020508287:98,775,688G/A—uncertain significance
rs10243317957:98,775,689C/T—uncertain significance
rs14356965777:98,775,694G/T—likely benign
rs1453514237:98,775,696C/T—benign
rs17989858587:98,775,697C/G—likely benign
rs5609207157:98,775,703C/T—likely benign
rs21507011027:98,775,709G/T—likely benign
rs560722767:98,778,222G/Aintron variant—
rs737127347:98,779,489T/G—benign
rs1998854567:98,779,499G/A—likely benign
rs17892631927:98,779,501C/T—uncertain significance
rs1381763877:98,779,503C/T—conflicting classifications of pathogenicity
rs5555395047:98,779,512G/T—likely benign
rs12500057907:98,779,517A/G—uncertain significance
rs17892665917:98,779,538T/G—uncertain significance
rs11840674537:98,779,539G/A—likely benign
rs14271612087:98,779,541G/C—uncertain significance
rs15630701587:98,779,547T/C—uncertain significance
rs11977508197:98,779,555T/A—uncertain significance
rs25353983417:98,779,557T/G—likely benign
rs14599657807:98,779,559G/A—uncertain significance
rs21507163997:98,779,570A/G—uncertain significance
rs7969769057:98,779,571G/C—uncertain significance
rs25353986077:98,779,572A/G—likely benign
rs12905661847:98,779,579A/G—uncertain significance
rs7621426487:98,779,582G/C—uncertain significance
rs9787016847:98,779,583G/T—uncertain significance
rs13025387287:98,779,587C/T—likely benign
rs5443079017:98,779,592C/T—uncertain significance
rs21507165067:98,779,593C/A—likely benign
rs10605025737:98,779,594C/A—uncertain significance
rs25353990667:98,779,596A/C—likely benign
rs12024610147:98,779,597G/A—uncertain significance
rs12070905657:98,779,604C/T—uncertain significance
rs9870746747:98,779,605G/A—likely benign
rs13952319647:98,779,608C/T—likely benign
rs7714741887:98,779,612A/G—uncertain significance
rs25353993987:98,779,616G/C—uncertain significance
rs5628830447:98,779,625T/C—conflicting classifications of pathogenicity
rs15842698627:98,779,626G/T—likely benign
rs9205421637:98,779,633C/A—uncertain significance
rs5336830357:98,779,636G/A—uncertain significance

Showing 100 of 432 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.