HNRNPK

heterogeneous nuclear ribonucleoprotein K

Summary

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene is located in the nucleoplasm and has three repeats of KH domains that binds to RNAs. It is distinct among other hnRNP proteins in its binding preference; it binds tenaciously to poly(C). This protein is also thought to have a role during cell cycle progession. Several alternatively spliced transcript variants have been described for this gene, however, not all of them are fully characterized. [provided by RefSeq, Jul 2008]

Known Variants179 total

rsidPosition (GRCh37)AllelesClassClinVar
rs2968849:86,582,923G/A——
rs6968259:86,583,076C/Tdownstream gene variant—
rs21330083749:86,584,273A/G—uncertain significance
rs24919434869:86,584,347T/C—uncertain significance
rs24919439419:86,584,371A/G—likely benign
rs2968859:86,584,903A/G—benign
rs10481997599:86,585,070A/C—conflicting classifications of pathogenicity
rs24919515489:86,585,076C/T—pathogenic
rs21330143449:86,585,079G/C—uncertain significance
rs12635263089:86,585,112G/A—likely benign
rs7465733509:86,585,141G/T—likely benign
rs1153460139:86,585,148G/A—likely benign
rs21330149939:86,585,156C/T—likely pathogenic
rs19567651389:86,585,165C/A—likely pathogenic
rs7519864679:86,585,178C/T—likely benign
rs7596837199:86,585,187C/T—likely benign
rs7674549809:86,585,188G/Tstop gainedpathogenic
rs13481627499:86,585,198G/A—pathogenic
rs617550889:86,585,202T/C—likely benign
rs7503074569:86,585,213G/A—uncertain significance
rs1155273979:86,585,232A/G—benign
rs24919524149:86,585,240C/T—uncertain significance
rs24919525919:86,585,252A/G—likely benign
rs5685831959:86,585,263A/G—likely benign
rs3713867859:86,585,643G/A—likely benign
rs24919567039:86,585,649T/A—uncertain significance
rs24919567119:86,585,650A/C—likely pathogenic
rs7712896439:86,585,660G/A—uncertain significance
rs24919567549:86,585,671T/C—uncertain significance
rs24919568559:86,585,690C/T—uncertain significance
rs1811417779:86,585,703A/G—benign
rs3757044829:86,585,717C/T—conflicting classifications of pathogenicity
rs15884123909:86,585,720C/A—likely pathogenic
rs7642236319:86,585,725T/C—uncertain significance
rs21330200939:86,585,734T/C—likely pathogenic
rs24919572299:86,585,735C/T—likely pathogenic
rs21330201309:86,585,737G/C—likely pathogenic
rs1998559069:86,585,754G/A—benign
rs7556506349:86,585,795C/A—likely benign
rs24919578979:86,585,811C/A—pathogenic
rs7569567219:86,585,819G/A—likely benign
rs12308322549:86,585,823C/G—uncertain significance
rs24919579869:86,585,829T/G—pathogenic
rs7724578029:86,585,840A/G—likely benign
rs7526342849:86,586,168G/A—likely benign
rs1822937689:86,586,178G/C—benign
rs19568255759:86,586,181A/G—benign
rs24919619499:86,586,187C/T—likely pathogenic
rs7612495229:86,586,197A/G—likely benign
rs1142790439:86,586,218T/A—benign
rs10149104929:86,586,238C/T—conflicting classifications of pathogenicity
rs3726203809:86,586,259C/T—likely benign
rs24919628129:86,586,272C/T—uncertain significance
rs5553382279:86,586,280G/A—likely benign
rs7605087069:86,586,282T/C—likely benign
rs771205059:86,586,525G/A—benign
rs3702059499:86,586,580T/C—likely benign
rs15546986589:86,586,586C/T—pathogenic
rs3724150859:86,586,593G/A—likely benign
rs14727559999:86,586,595C/T—uncertain significance
rs7592032149:86,586,600C/T—uncertain significance
rs21330281679:86,586,606C/T—likely pathogenic
rs15884161249:86,586,626A/G—likely benign
rs19568521949:86,586,646A/C—likely pathogenic
rs5723869989:86,586,780C/G—likely benign
rs1998326989:86,586,783A/C—benign
rs11972793009:86,586,789C/A—likely benign
rs8792552639:86,586,818——pathogenic
rs11635158659:86,586,859G/A—likely benign
rs24919694219:86,586,864G/A—pathogenic
rs7690802089:86,586,865T/G—likely benign
rs9672397119:86,586,868G/A—likely benign
rs24919697129:86,586,879G/A—uncertain significance
rs15546988789:86,586,891G/A—pathogenic
rs21330307009:86,586,896G/A—uncertain significance
rs14650681629:86,586,925T/C—likely benign
rs24919702499:86,586,926G/A—uncertain significance
rs11653429899:86,586,943A/C—likely benign
rs7537222239:86,586,954G/A—uncertain significance
rs9814012109:86,586,955A/G—likely benign
rs9601833419:86,586,958C/T—conflicting classifications of pathogenicity
rs7570920619:86,586,971C/T—uncertain significance
rs7457603989:86,586,985C/T—uncertain significance
rs7716154409:86,586,987T/C—uncertain significance
rs15640619489:86,587,030T/G—likely benign
rs2007830609:86,587,060G/A—likely benign
rs24919715509:86,587,070G/T—uncertain significance
rs7596264359:86,587,075A/G—likely benign
rs15884178009:86,587,077A/G—pathogenic
rs15640621449:86,587,105C/T—likely pathogenic
rs7650572699:86,587,114G/A—likely benign
rs24919798509:86,587,746T/C—likely benign
rs7471638499:86,587,752G/T—likely benign
rs19569154169:86,587,758C/A—likely pathogenic
rs7514659099:86,587,804A/G—likely benign
rs7545175829:86,587,810T/C—likely benign
rs24919804019:86,587,820A/G—uncertain significance
rs24919804659:86,587,829A/C—likely pathogenic
rs15546993789:86,587,835T/G—likely pathogenic
rs24919805399:86,587,838G/A—likely pathogenic

Showing 100 of 179 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.