KCNE1

potassium voltage-gated channel subfamily E regulatory subunit 1

Summary

The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

Known Variants281 total

rsidPosition (GRCh37)AllelesClassClinVar
rs283448521:35,819,014G/A—benign
rs345321:35,819,063T/C—benign
rs91367692921:35,819,068T/C—uncertain significance
rs1305019821:35,819,082C/T—likely benign
rs74744247621:35,819,130A/T—uncertain significance
rs56763044821:35,819,150G/A—uncertain significance
rs37397016721:35,819,214G/T—uncertain significance
rs74551221821:35,819,223C/A—uncertain significance
rs89630214821:35,819,245G/C—uncertain significance
rs145492055221:35,819,337C/T—uncertain significance
rs52980667021:35,819,349A/G—likely benign
rs53055437321:35,819,393C/T—likely benign
rs4131479321:35,819,420C/T—likely benign
rs4131236721:35,819,440G/A—likely benign
rs4131299321:35,819,445G/A—likely benign
rs88605701121:35,819,535C/T—uncertain significance
rs221169621:35,819,536A/G—benign
rs4131479921:35,819,542C/T—conflicting classifications of pathogenicity
rs54407164121:35,819,543G/A—likely benign
rs88605701521:35,819,615A/G—uncertain significance
rs75402103921:35,819,684C/T—uncertain significance
rs198072698121:35,819,686C/T—uncertain significance
rs4131236921:35,819,705A/T—likely benign
rs88605701621:35,819,711G/A—uncertain significance
rs4131406521:35,819,712G/A—uncertain significance
rs5755555021:35,819,728T/C—likely benign
rs88605701721:35,819,842T/C—uncertain significance
rs18199903321:35,819,877C/T—likely benign
rs88605701821:35,819,960T/G—uncertain significance
rs56199737821:35,819,969G/A—conflicting classifications of pathogenicity
rs88605701921:35,819,987C/T—uncertain significance
rs144857846821:35,820,001C/T—uncertain significance
rs4131480121:35,820,004G/T—uncertain significance
rs88605702021:35,820,096G/C—uncertain significance
rs7450899521:35,820,205G/A—conflicting classifications of pathogenicity
rs1170062121:35,820,221T/C—benign
rs89017455421:35,820,253C/T—uncertain significance
rs1190907421:35,820,324C/T—benign
rs88605702121:35,820,351T/C—uncertain significance
rs4131299521:35,820,465C/T—uncertain significance
rs4131480321:35,820,475T/G—benign
rs88605702221:35,820,500A/G—uncertain significance
rs88605702321:35,820,548C/G—uncertain significance
rs54436501821:35,820,583G/A—uncertain significance
rs18205064721:35,820,620C/T—likely benign
rs7537596421:35,820,726T/C—likely benign
rs1699170321:35,820,965G/A—benign
rs57090777921:35,820,990T/C—conflicting classifications of pathogenicity
rs7719066021:35,821,050G/A—conflicting classifications of pathogenicity
rs4131406721:35,821,053C/G—benign
rs88605702421:35,821,086C/T—uncertain significance
rs207035621:35,821,087A/G—benign
rs144721691921:35,821,168G/A—uncertain significance
rs4131480521:35,821,170T/C—conflicting classifications of pathogenicity
rs198088775321:35,821,177T/G—uncertain significance
rs198089884821:35,821,265T/A—uncertain significance
rs4131480721:35,821,275G/A—likely benign
rs7656818221:35,821,347G/C—conflicting classifications of pathogenicity
rs4131407121:35,821,411T/C—benign
rs207035721:35,821,419C/T—benign
rs15096347521:35,821,513G/C—conflicting classifications of pathogenicity
rs212345648121:35,821,545A/G—uncertain significance
rs75995087221:35,821,549G/T—likely benign
rs198093521621:35,821,553G/A—uncertain significance
rs19947364721:35,821,554G/Tmissense variantuncertain significance
rs76768663421:35,821,558C/T—likely benign
rs14251134521:35,821,559G/Amissense variantpathogenic
rs121157662021:35,821,562T/C—uncertain significance
rs198093996321:35,821,565G/A—uncertain significance
rs156883542521:35,821,574G/A—uncertain significance
rs76413099021:35,821,584G/A—uncertain significance
rs123518200821:35,821,586T/G—uncertain significance
rs212345678521:35,821,590T/C—conflicting classifications of pathogenicity
rs251676227521:35,821,592G/A—uncertain significance
rs75402087821:35,821,593C/T—uncertain significance
rs37682954221:35,821,594C/T—likely benign
rs54702357021:35,821,596G/C—uncertain significance
rs135253151121:35,821,598T/C—uncertain significance
rs212345687921:35,821,604T/C—uncertain significance
rs160104281021:35,821,606A/C—likely benign
rs7744299621:35,821,608C/T—conflicting classifications of pathogenicity
rs20068406021:35,821,609G/A—likely benign
rs56385914421:35,821,618C/T—likely benign
rs78004140421:35,821,619G/A—conflicting classifications of pathogenicity
rs74662815121:35,821,621C/T—likely benign
rs212345705821:35,821,622C/G—uncertain significance
rs14064304721:35,821,635G/A—likely benign
rs78055366921:35,821,636G/C—likely benign
rs251676271921:35,821,639C/A—likely benign
rs15045491221:35,821,640C/T—uncertain significance
rs19947336221:35,821,641G/Amissense variantpathogenic
rs139060052021:35,821,645C/T—likely benign
rs76797299721:35,821,646T/C—uncertain significance
rs77240517421:35,821,650C/T—uncertain significance
rs198096888021:35,821,653A/G—uncertain significance
rs131022904921:35,821,656C/T—conflicting classifications of pathogenicity
rs251676293921:35,821,658T/C—uncertain significance
rs14661485021:35,821,660G/C—uncertain significance
rs156883590621:35,821,665T/A—likely pathogenic
rs125615508921:35,821,668C/T—conflicting classifications of pathogenicity

Showing 100 of 281 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.