KCNQ2

potassium voltage-gated channel subfamily Q member 2

Summary

The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants1,467 total

rsidPosition (GRCh37)AllelesClassClinVar
rs53525693520:62,032,032T/C—likely benign
rs374637220:62,032,035C/A—benign
rs57709486320:62,032,048C/T—likely benign
rs52741086320:62,032,067G/A—likely benign
rs37721451520:62,032,082G/A—benign
rs54085432120:62,032,093G/C—likely benign
rs3469054920:62,037,702G/A—benign
rs612244020:62,037,749G/A—benign
rs20140176420:62,037,968G/A—benign
rs37182591220:62,037,974G/T—benign
rs74692490920:62,037,991G/A—likely benign
rs180150820:62,037,993C/T—likely benign
rs77343301520:62,037,994G/A—likely benign
rs132761683220:62,037,998C/T—likely benign
rs120464394720:62,038,000C/G—uncertain significance
rs58778036920:62,038,003C/Amissense variantlikely benign
rs207994256220:62,038,004C/T—uncertain significance
rs100661325320:62,038,005T/C—uncertain significance
rs251608988720:62,038,008G/A—uncertain significance
rs126841754020:62,038,009C/G—likely benign
rs76291063820:62,038,011C/T—conflicting classifications of pathogenicity
rs57226793820:62,038,012G/A—likely benign
rs77459502420:62,038,014C/G—uncertain significance
rs160154134820:62,038,017A/G—uncertain significance
rs75986007920:62,038,022A/C—uncertain significance
rs101797275120:62,038,023C/T—uncertain significance
rs53636683720:62,038,024G/A—likely benign
rs79605266220:62,038,032A/G—uncertain significance
rs160154141420:62,038,033G/T—likely benign
rs251609054520:62,038,038C/G—uncertain significance
rs160154143820:62,038,039C/T—likely benign
rs251609064620:62,038,041C/T—uncertain significance
rs37008905020:62,038,042G/A—likely benign
rs75660976820:62,038,044C/T—conflicting classifications of pathogenicity
rs76452578820:62,038,045G/A—likely benign
rs75336803620:62,038,046G/A—uncertain significance
rs128061235520:62,038,050C/A—uncertain significance
rs95128677520:62,038,051C/T—likely benign
rs1248108220:62,038,052G/A—conflicting classifications of pathogenicity
rs123824959020:62,038,055C/A—uncertain significance
rs37353627420:62,038,056G/A—benign
rs381047220:62,038,060C/T—likely benign
rs74550876220:62,038,061G/A—conflicting classifications of pathogenicity
rs156885857820:62,038,063G/A—uncertain significance
rs77998654720:62,038,068C/T—uncertain significance
rs74673058820:62,038,069G/A—likely benign
rs76873167220:62,038,070C/A—uncertain significance
rs14727404520:62,038,072C/T—likely benign
rs37763350720:62,038,073G/A—uncertain significance
rs207994706220:62,038,080A/C—uncertain significance
rs19962185520:62,038,081G/C—likely benign
rs139115471520:62,038,085T/C—uncertain significance
rs14067481920:62,038,087G/A—likely benign
rs251609198020:62,038,092C/G—uncertain significance
rs76097915620:62,038,093G/A—likely benign
rs207994801220:62,038,100G/T—uncertain significance
rs251609220020:62,038,104C/G—uncertain significance
rs251609232020:62,038,110C/G—uncertain significance
rs76461524620:62,038,111C/G—likely benign
rs75431088320:62,038,112G/A—uncertain significance
rs155585028920:62,038,116T/C—uncertain significance
rs214548267620:62,038,123C/T—likely benign
rs76127584020:62,038,126G/C—likely benign
rs118123840320:62,038,133G/A—uncertain significance
rs214548282420:62,038,136C/A—uncertain significance
rs214548284720:62,038,137A/G—uncertain significance
rs214548288320:62,038,139G/C—uncertain significance
rs147929003620:62,038,141C/T—likely benign
rs156885896920:62,038,142G/C—uncertain significance
rs75010804020:62,038,146C/T—uncertain significance
rs75807189120:62,038,147G/A—likely benign
rs77979831020:62,038,150C/T—likely benign
rs79605266120:62,038,151G/A—uncertain significance
rs75142580720:62,038,152C/T—uncertain significance
rs78132340520:62,038,153G/A—likely benign
rs74809715820:62,038,162G/A—likely benign
rs79605266020:62,038,170C/T—uncertain significance
rs37184410120:62,038,171A/C—uncertain significance
rs251609362620:62,038,176G/A—likely benign
rs214548317820:62,038,177G/T—uncertain significance
rs251609371020:62,038,181T/G—uncertain significance
rs251609372520:62,038,183C/T—likely benign
rs251609386820:62,038,191G/A—pathogenic
rs214548335120:62,038,192G/A—likely benign
rs77904813120:62,038,195G/A—likely benign
rs120202515720:62,038,197T/G—uncertain significance
rs37452667320:62,038,207G/A—likely benign
rs79605265920:62,038,212A/G—uncertain significance
rs251609452020:62,038,213G/C—likely benign
rs207995337420:62,038,216A/G—likely benign
rs77230164820:62,038,217C/A—uncertain significance
rs76106840620:62,038,228C/T—likely benign
rs14301698120:62,038,231G/A—likely benign
rs37722790920:62,038,239C/G—uncertain significance
rs76559319220:62,038,240G/A—likely benign
rs74995872120:62,038,243C/T—likely benign
rs76232451420:62,038,246G/A—likely benign
rs214548385820:62,038,247A/G—uncertain significance
rs214548396120:62,038,253A/G—uncertain significance
rs140745995020:62,038,255G/A—likely benign

Showing 100 of 1,467 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.