KCNB1

potassium voltage-gated channel subfamily B member 1

Summary

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel and its activity is modulated by some other family members. [provided by RefSeq, Jul 2008]

Known Variants611 total

rsidPosition (GRCh37)AllelesClassClinVar
rs23745020:47,982,128G/A3 prime UTR variant—
rs142239313020:47,984,381G/A—uncertain significance
rs105129520:47,988,905A/T——
rs14770812220:47,989,449T/G—likely benign
rs36815917320:47,989,503C/T—likely benign
rs75766887620:47,989,525T/C—benign
rs3428019520:47,989,527T/C—benign
rs76464870920:47,989,536C/T—conflicting classifications of pathogenicity
rs78041613820:47,989,537G/A—benign
rs100198270820:47,989,539G/A—uncertain significance
rs214681152920:47,989,541G/A—likely benign
rs103376109720:47,989,544T/C—likely benign
rs251684935720:47,989,551G/T—uncertain significance
rs76968844620:47,989,557C/T—uncertain significance
rs251684938820:47,989,559C/T—likely benign
rs138644984220:47,989,560C/A—uncertain significance
rs131404116020:47,989,566A/G—benign
rs123386705720:47,989,568C/T—likely benign
rs18542216920:47,989,572C/T—likely benign
rs75896458520:47,989,573G/A—likely benign
rs54270831820:47,989,576C/T—benign
rs37214754420:47,989,577G/A—likely benign
rs76107068720:47,989,581G/A—likely benign
rs198417264720:47,989,582G/T—uncertain significance
rs198417289320:47,989,585A/G—benign
rs251684947620:47,989,606A/G—uncertain significance
rs55476889720:47,989,619A/G—likely benign
rs174405169520:47,989,623G/A—uncertain significance
rs3446766220:47,989,624A/G—uncertain significance
rs37517737520:47,989,625G/A—likely benign
rs78046947820:47,989,626C/T—benign
rs251684954120:47,989,627C/G—uncertain significance
rs214681169920:47,989,629T/C—benign
rs251684955220:47,989,636T/A—uncertain significance
rs198417492320:47,989,637C/A—uncertain significance
rs75521044620:47,989,640T/C—likely benign
rs77764507620:47,989,641G/A—likely benign
rs37342374020:47,989,642C/T—benign
rs75728667720:47,989,647G/C—uncertain significance
rs251684957720:47,989,650G/T—uncertain significance
rs56502564320:47,989,655A/C—conflicting classifications of pathogenicity
rs74543273920:47,989,672A/G—likely benign
rs124901902020:47,989,680G/A—benign
rs147185648220:47,989,681G/A—uncertain significance
rs214681180220:47,989,682G/A—likely benign
rs198417769520:47,989,685G/T—likely benign
rs104987406920:47,989,686G/A—uncertain significance
rs126286474520:47,989,687T/C—uncertain significance
rs95027261320:47,989,697G/A—likely benign
rs125669530020:47,989,701C/T—conflicting classifications of pathogenicity
rs113169175220:47,989,705C/G—conflicting classifications of pathogenicity
rs75010592220:47,989,721C/T—likely benign
rs77705341820:47,989,722G/A—likely benign
rs141157128020:47,989,727T/C—likely benign
rs198418032420:47,989,728G/A—uncertain significance
rs198418056820:47,989,731C/T—uncertain significance
rs11213259620:47,989,733C/T—likely benign
rs14093298520:47,989,734G/T—benign
rs76316295220:47,989,745C/T—likely benign
rs76659656820:47,989,746G/A—likely benign
rs251684971220:47,989,748A/T—uncertain significance
rs75163937720:47,989,752G/C—uncertain significance
rs127178219320:47,989,755C/T—likely benign
rs141017174920:47,989,757C/T—likely benign
rs251684974120:47,989,761G/A—likely benign
rs14211131020:47,989,763G/A—benign
rs147266347020:47,989,767C/A—likely benign
rs198418289620:47,989,768T/C—uncertain significance
rs75698242620:47,989,770T/C—likely benign
rs77895196520:47,989,772G/C—likely benign
rs53092763620:47,989,773G/C—conflicting classifications of pathogenicity
rs14246122120:47,989,774G/C—conflicting classifications of pathogenicity
rs147160552020:47,989,775G/A—likely benign
rs74859738220:47,989,777G/T—conflicting classifications of pathogenicity
rs251684979720:47,989,778G/A—likely benign
rs144577122720:47,989,782G/T—uncertain significance
rs251684981120:47,989,784G/A—likely benign
rs130430087220:47,989,785T/A—conflicting classifications of pathogenicity
rs120949332020:47,989,791C/A—uncertain significance
rs77358732320:47,989,799C/G—likely benign
rs127732963320:47,989,813C/T—uncertain significance
rs14592797420:47,989,818G/T—uncertain significance
rs251684986820:47,989,823T/A—likely benign
rs77457742820:47,989,825C/T—benign
rs19072685220:47,989,826G/A—likely benign
rs76782826820:47,989,828C/T—uncertain significance
rs123952103720:47,989,830A/G—likely benign
rs251684989020:47,989,833T/C—uncertain significance
rs145158500120:47,989,845C/A—benign
rs36873660920:47,989,847C/T—likely benign
rs75015763420:47,989,848G/A—likely benign
rs75833229520:47,989,849C/T—benign
rs251684993120:47,989,859G/A—likely benign
rs198419086920:47,989,862C/T—likely benign
rs198419110720:47,989,863G/A—uncertain significance
rs121810702820:47,989,872G/T—likely benign
rs15117597920:47,989,890C/G—uncertain significance
rs75442800520:47,989,891G/A—conflicting classifications of pathogenicity
rs198419384320:47,989,893G/A—uncertain significance
rs26760598320:47,989,894G/C—uncertain significance

Showing 100 of 611 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.