CARD14

caspase recruitment domain family member 14

Summary

This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]

Known Variants980 total

rsidPosition (GRCh37)AllelesClassClinVar
rs54041966617:78,147,122C/A——
rs5628243917:78,155,004A/G—benign
rs722400417:78,155,098G/A—benign
rs990647217:78,155,182A/C—benign
rs36787875717:78,155,230G/T—benign
rs204017098817:78,155,241G/A—uncertain significance
rs75446045817:78,155,244G/A—likely benign
rs76691567517:78,155,246A/G—likely benign
rs55936389817:78,155,253C/T—conflicting classifications of pathogenicity
rs94490286117:78,155,256A/T—uncertain significance
rs251055313417:78,155,258G/A—likely benign
rs77962212817:78,155,263C/G—uncertain significance
rs989593117:78,155,264C/T—likely benign
rs122234253117:78,155,267A/G—likely benign
rs56988963917:78,155,272C/T—likely benign
rs74722231717:78,155,273G/C—likely benign
rs159863405717:78,155,277C/G—uncertain significance
rs76895942817:78,155,282C/T—conflicting classifications of pathogenicity
rs147034201617:78,155,283G/A—uncertain significance
rs251055369617:78,155,286G/A—uncertain significance
rs74831507417:78,155,291A/G—likely benign
rs53766977717:78,155,293T/C—uncertain significance
rs77313725217:78,155,300G/A—likely benign
rs251055402517:78,155,301A/G—uncertain significance
rs124438271817:78,155,316C/T—uncertain significance
rs96326894317:78,155,317G/A—uncertain significance
rs135867438617:78,155,318C/T—likely benign
rs93454222717:78,155,323G/A—uncertain significance
rs251055440517:78,155,324G/C—uncertain significance
rs54934750817:78,155,327C/T—conflicting classifications of pathogenicity
rs77207730717:78,155,328G/A—uncertain significance
rs89563972217:78,155,331C/T—uncertain significance
rs91907610117:78,155,332G/A—uncertain significance
rs77425206317:78,155,336C/T—likely benign
rs101412746417:78,155,342C/G—uncertain significance
rs75908073817:78,155,344C/T—uncertain significance
rs28187521717:78,155,349C/T—uncertain significance
rs37164327217:78,155,350G/A—uncertain significance
rs75213763517:78,155,354C/A—likely benign
rs251055514617:78,155,362A/G—uncertain significance
rs124102530217:78,155,366G/A—likely benign
rs37469095517:78,155,367C/T—uncertain significance
rs74696928117:78,155,368G/A—uncertain significance
rs14593301817:78,155,387C/G—uncertain significance
rs204017742017:78,155,392T/C—uncertain significance
rs36856532117:78,155,396C/G—uncertain significance
rs75514031917:78,155,397G/A—uncertain significance
rs214415079217:78,155,410T/C—uncertain significance
rs117126365717:78,155,413A/G—uncertain significance
rs204017847717:78,155,414C/G—uncertain significance
rs140478980517:78,155,416G/A—uncertain significance
rs11558262017:78,155,422G/A—likely benign
rs129631766917:78,155,428C/T—uncertain significance
rs125407662317:78,155,435C/T—likely benign
rs77088824117:78,155,436G/A—uncertain significance
rs104362874117:78,155,439A/C—uncertain significance
rs77363375417:78,155,440T/C—uncertain significance
rs37562443517:78,155,442C/T—uncertain significance
rs36972610517:78,155,443G/A—uncertain significance
rs57728659917:78,155,447C/T—likely benign
rs89551648517:78,155,448G/A—uncertain significance
rs251055692517:78,155,449G/C—uncertain significance
rs101257357017:78,155,454C/T—uncertain significance
rs77089536417:78,155,455G/A—likely benign
rs53971360517:78,155,468C/T—benign
rs990946217:78,156,291A/G—benign
rs75537232217:78,156,432A/G—likely benign
rs20072525617:78,156,433G/A—benign
rs75293629317:78,156,435C/T—likely benign
rs77780106817:78,156,436G/A—likely benign
rs251056732817:78,156,444C/T—likely benign
rs214416426917:78,156,473A/C—uncertain significance
rs14374762017:78,156,474G/T—conflicting classifications of pathogenicity
rs76038497117:78,156,476C/T—uncertain significance
rs37731609917:78,156,478C/T—uncertain significance
rs159863686717:78,156,479G/A—uncertain significance
rs14817077617:78,156,489C/T—conflicting classifications of pathogenicity
rs19326278017:78,156,490G/A—uncertain significance
rs76790078717:78,156,491G/A—uncertain significance
rs90365310117:78,156,493G/A—uncertain significance
rs14712223917:78,156,498C/T—likely benign
rs37089781717:78,156,499G/A—uncertain significance
rs37300562017:78,156,507G/A—uncertain significance
rs75385975817:78,156,528C/T—conflicting classifications of pathogenicity
rs159863700417:78,156,532G/A—uncertain significance
rs75736443417:78,156,534C/T—likely benign
rs55277950517:78,156,539A/G—uncertain significance
rs251056901917:78,156,550A/G—uncertain significance
rs76836201117:78,156,552C/T—conflicting classifications of pathogenicity
rs251056914617:78,156,562C/T—uncertain significance
rs101425243617:78,156,566A/T—uncertain significance
rs13813914017:78,156,569T/C—benign
rs143992741717:78,156,582C/T—likely benign
rs37225760017:78,156,585T/C—likely benign
rs77581914917:78,156,588C/T—uncertain significance
rs28187521517:78,156,589G/Amissense variantpathogenic
rs88604140217:78,156,590G/A—pathogenic
rs58777776317:78,156,594G/C—pathogenic
rs251056997017:78,156,596G/A—likely benign
rs100199659217:78,156,597C/T—likely benign

Showing 100 of 980 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.