CAMK2B

calcium/calmodulin dependent protein kinase II beta

Summary

The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

Known Variants603 total

rsidPosition (GRCh37)AllelesClassClinVar
rs9155232557:44,259,664C/T—likely benign
rs7554278797:44,259,668A/G—conflicting classifications of pathogenicity
rs1505927357:44,259,670C/T—likely benign
rs10398894977:44,259,671G/A—conflicting classifications of pathogenicity
rs24847528737:44,259,676C/T—likely benign
rs7568065907:44,259,682C/T—likely benign
rs7785908277:44,259,683G/A—likely benign
rs5653186457:44,259,684C/A—uncertain significance
rs771580487:44,259,685G/A—benign
rs3775930427:44,259,688C/T—likely benign
rs1467888767:44,259,700G/A—likely benign
rs24847548777:44,259,703C/G—likely benign
rs12829619377:44,259,705C/T—uncertain significance
rs10653597:44,259,706G/A—benign
rs20963810677:44,259,715C/T—likely benign
rs3682450027:44,259,720C/T—uncertain significance
rs3724866747:44,259,721G/A—likely benign
rs14891510767:44,259,723C/T—uncertain significance
rs7617592527:44,259,724G/A—likely benign
rs7698222217:44,259,725C/T—likely benign
rs7732826187:44,259,726G/A—uncertain significance
rs7631760767:44,259,727G/A—likely benign
rs7664956787:44,259,728C/T—likely benign
rs14544497027:44,259,729G/A—benign
rs9946312937:44,259,738C/A—uncertain significance
rs563475007:44,259,739G/A—likely benign
rs21288578497:44,259,741G/A—uncertain significance
rs20963816177:44,259,748C/T—likely benign
rs10653587:44,259,752G/Amissense variant—
rs563873137:44,259,763G/A—likely benign
rs2001150007:44,259,764C/T—benign
rs7579882327:44,259,765G/A—conflicting classifications of pathogenicity
rs9791809997:44,259,766G/A—likely benign
rs3758300297:44,259,770C/T—likely benign
rs3699733267:44,259,775C/T—likely benign
rs7731904687:44,259,780C/T—likely benign
rs14632751697:44,259,781G/A—likely benign
rs1390813147:44,259,786T/C—conflicting classifications of pathogenicity
rs14327686147:44,259,790C/T—likely benign
rs1499162987:44,259,793C/T—likely benign
rs7612091727:44,259,801G/A—likely benign
rs13569648617:44,259,805G/A—likely benign
rs7646877647:44,259,811G/A—likely benign
rs7544397977:44,259,813T/C—uncertain significance
rs20963827287:44,259,817G/A—likely benign
rs7578202257:44,259,819C/A—likely benign
rs7659327937:44,259,820G/A—likely benign
rs24847625797:44,259,825C/G—uncertain significance
rs13828445047:44,259,829T/C—likely benign
rs24847629437:44,259,830C/G—likely benign
rs12559193347:44,259,832A/C—uncertain significance
rs24847632627:44,259,834T/C—uncertain significance
rs7546277797:44,259,837C/T—uncertain significance
rs7809059197:44,259,838G/A—likely benign
rs10547835947:44,259,841C/T—likely benign
rs14556607347:44,259,843C/T—uncertain significance
rs7479228857:44,259,844G/A—likely benign
rs13854942947:44,259,855G/A—likely benign
rs2008080927:44,259,862C/T—likely benign
rs11270657:44,259,871C/Tsynonymous variantbenign
rs12872728147:44,259,872G/A—likely benign
rs24847658577:44,259,878C/T—likely benign
rs7629035007:44,259,899G/T—likely benign
rs20963836547:44,259,901C/T—likely benign
rs12785904747:44,259,904C/A—likely benign
rs3676416837:44,259,908C/T—likely benign
rs7460125917:44,259,909G/A—likely benign
rs5761268387:44,259,913C/T—likely benign
rs3723127787:44,260,199G/A—likely benign
rs3757787837:44,260,215G/A—uncertain significance
rs24847881477:44,260,240G/A—likely benign
rs13273332887:44,260,242C/T—uncertain significance
rs24847888247:44,260,246C/T—likely benign
rs20963892647:44,260,276C/T—likely benign
rs3689975987:44,260,282C/T—likely benign
rs9816671827:44,260,283G/A—likely benign
rs12301081157:44,260,291C/G—likely benign
rs7670630747:44,260,292C/T—likely benign
rs7522982357:44,260,294T/C—likely benign
rs3727992767:44,260,314G/A—likely benign
rs7536877147:44,260,317C/A—likely benign
rs5522642237:44,260,405C/A—likely benign
rs3777487727:44,260,406C/A—likely benign
rs3687577517:44,260,407C/A—likely benign
rs7483775317:44,260,408C/A—likely benign
rs21288619797:44,260,412C/T—likely benign
rs21288620807:44,260,424C/T—uncertain significance
rs7497550087:44,260,425G/A—likely benign
rs11635726467:44,260,426C/T—uncertain significance
rs9233253217:44,260,427G/A—likely benign
rs12551611107:44,260,445G/A—likely benign
rs7716068537:44,260,453C/T—conflicting classifications of pathogenicity
rs7681139947:44,260,454G/A—likely benign
rs3730653967:44,260,456C/T—conflicting classifications of pathogenicity
rs20963932617:44,260,459C/G—uncertain significance
rs7613805617:44,260,460G/A—likely benign
rs21288624297:44,260,462T/G—likely benign
rs24848053647:44,260,465G/A—likely benign
rs7650465207:44,260,472C/T—likely benign
rs5640979867:44,260,475G/T—likely benign

Showing 100 of 603 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.