KCNJ5

potassium inwardly rectifying channel subfamily J member 5

Summary

This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a subunit of the potassium channel which is homotetrameric. It is controlled by G-proteins and has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Naturally occurring mutations in this gene are associated with aldosterone-producing adenomas. [provided by RefSeq, Aug 2017]

Known Variants331 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1122149711:128,760,610G/Cregulatory region variant—
rs146842519711:128,761,320C/G—uncertain significance
rs146026622811:128,761,322C/G—uncertain significance
rs86688126011:128,761,324C/G—conflicting classifications of pathogenicity
rs86841656111:128,761,326C/G—conflicting classifications of pathogenicity
rs7147065511:128,761,328C/G—conflicting classifications of pathogenicity
rs7147065411:128,761,330C/G—conflicting classifications of pathogenicity
rs37232830711:128,761,332C/G—conflicting classifications of pathogenicity
rs37664055311:128,761,334C/G—conflicting classifications of pathogenicity
rs1089393111:128,761,336C/G—uncertain significance
rs6065816311:128,761,338G/C—uncertain significance
rs86813004911:128,761,340G/C—uncertain significance
rs88604800611:128,761,342G/C—uncertain significance
rs54930251011:128,761,350G/A—benign
rs88604800711:128,761,355A/G—uncertain significance
rs88604800911:128,761,374G/T—uncertain significance
rs194409134311:128,761,414G/A—uncertain significance
rs146074744411:128,761,482C/T—uncertain significance
rs55706396711:128,761,564G/C—conflicting classifications of pathogenicity
rs57278554211:128,761,592G/C—uncertain significance
rs143694579711:128,761,630T/C—likely benign
rs794158211:128,761,675G/A—benign
rs7555744311:128,766,366C/Tregulatory region variant—
rs376561811:128,769,876C/Gintron variant—
rs55826393411:128,781,078C/T—likely benign
rs75299202311:128,781,160A/C—uncertain significance
rs14723187811:128,781,177C/T—likely benign
rs52975592211:128,781,178G/A—conflicting classifications of pathogenicity
rs194449309311:128,781,186G/T—uncertain significance
rs155514484911:128,781,209A/T—uncertain significance
rs74555229711:128,781,218T/A—uncertain significance
rs37566936611:128,781,221C/T—conflicting classifications of pathogenicity
rs74679332211:128,781,223C/T—uncertain significance
rs194449367111:128,781,224C/T—uncertain significance
rs97424764011:128,781,229G/C—uncertain significance
rs194449414911:128,781,233C/T—uncertain significance
rs249772198811:128,781,235A/G—uncertain significance
rs194449421111:128,781,236A/G—uncertain significance
rs213599847011:128,781,241A/T—uncertain significance
rs86322468911:128,781,254C/A—uncertain significance
rs249772210611:128,781,255C/T—likely benign
rs14214001111:128,781,257G/A—uncertain significance
rs20188652611:128,781,258C/T—likely benign
rs76765119911:128,781,264T/C—likely benign
rs194449496611:128,781,278C/T—uncertain significance
rs213599852511:128,781,280G/A—uncertain significance
rs20006459911:128,781,283C/T—likely benign
rs56026934111:128,781,284G/A—uncertain significance
rs18541291811:128,781,287C/T—conflicting classifications of pathogenicity
rs37011458411:128,781,288G/A—likely benign
rs11501210311:128,781,289C/T—likely benign
rs13907333311:128,781,290G/A—likely benign
rs249772228011:128,781,291C/T—likely benign
rs75786751211:128,781,300C/T—likely benign
rs37244745611:128,781,301G/A—conflicting classifications of pathogenicity
rs129863010111:128,781,309G/C—uncertain significance
rs74663097411:128,781,312G/A—likely benign
rs78101185411:128,781,316C/T—uncertain significance
rs74815206811:128,781,317G/A—uncertain significance
rs14406208311:128,781,323G/A—uncertain significance
rs136800860111:128,781,328A/C—uncertain significance
rs7254430111:128,781,331G/A—uncertain significance
rs659035711:128,781,339T/Csynonymous variantbenign
rs55090937211:128,781,340G/A—uncertain significance
rs249772247411:128,781,350A/G—uncertain significance
rs76093141711:128,781,351C/T—likely benign
rs138980802411:128,781,352G/A—uncertain significance
rs14084823611:128,781,360C/T—likely benign
rs135620070211:128,781,361G/A—uncertain significance
rs37134769311:128,781,366C/T—likely benign
rs173542945011:128,781,372G/A—likely benign
rs75787736711:128,781,382C/T—conflicting classifications of pathogenicity
rs213599871211:128,781,387C/A—uncertain significance
rs89231761711:128,781,392G/A—uncertain significance
rs94517298711:128,781,408C/G—likely benign
rs194449830811:128,781,414G/A—likely benign
rs78102284711:128,781,427C/T—uncertain significance
rs74795170011:128,781,428G/A—uncertain significance
rs14685379511:128,781,441C/T—likely benign
rs74920293111:128,781,442G/A—uncertain significance
rs194449904011:128,781,444C/G—likely benign
rs159145026611:128,781,451A/T—uncertain significance
rs139068544211:128,781,463G/A—uncertain significance
rs20204679011:128,781,465C/T—likely benign
rs14538608111:128,781,467C/A—uncertain significance
rs213599882411:128,781,470G/C—uncertain significance
rs249772286311:128,781,471G/T—uncertain significance
rs20121736311:128,781,480C/T—likely benign
rs76890622211:128,781,481G/A—uncertain significance
rs77693219311:128,781,482G/C—uncertain significance
rs194449985111:128,781,484T/C—uncertain significance
rs249772293411:128,781,496C/T—uncertain significance
rs76227215411:128,781,498C/T—likely benign
rs249772295111:128,781,499A/G—uncertain significance
rs249772296711:128,781,504T/C—likely benign
rs53936891911:128,781,510C/G—uncertain significance
rs77387631511:128,781,511C/T—uncertain significance
rs36924780211:128,781,512G/A—uncertain significance
rs76587347411:128,781,519C/T—likely benign
rs148124811011:128,781,520C/A—uncertain significance

Showing 100 of 331 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.