TBK1

TANK binding kinase 1

Summary

The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors. The protein is also an important kinase for antiviral innate immunity response. [provided by RefSeq, Sep 2021]

Known Variants372 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7953177812:64,849,517A/Tlikely benign
rs253947657212:64,849,652T/Cuncertain significance
rs155520191912:64,849,654C/Tpathogenic
rs253947658012:64,849,655A/Guncertain significance
rs11569298312:64,849,659C/Tlikely benign
rs76440042912:64,849,664C/Auncertain significance
rs78132578012:64,849,690A/Guncertain significance
rs213605273812:64,849,691T/Cuncertain significance
rs76958480312:64,849,701A/Guncertain significance
rs57672608412:64,849,714A/Guncertain significance
rs4129201912:64,849,716T/Cbenign
rs115708528712:64,849,717G/Auncertain significance
rs74946112512:64,849,723C/Tuncertain significance
rs253947674112:64,849,729A/Guncertain significance
rs159235088712:64,849,737G/Apathogenic
rs14898241612:64,849,745C/Tlikely benign
rs37628183312:64,849,754C/Tlikely benign
rs14374344212:64,849,786G/Clikely benign
rs729822612:64,849,868C/Tbenign
rs7597725912:64,851,568A/Gbenign
rs75806174412:64,853,960T/Clikely benign
rs76619103112:64,853,965A/Glikely benign
rs194309577912:64,853,975G/Auncertain significance
rs253948242912:64,853,982T/Gpathogenic
rs20205666112:64,853,989T/Clikely benign
rs78087993612:64,853,990A/Guncertain significance
rs213605662812:64,853,991T/Guncertain significance
rs74806184612:64,854,006A/Gconflicting classifications of pathogenicity
rs75601182512:64,854,009T/Guncertain significance
rs1153842012:64,854,016C/Tlikely benign
rs213605665212:64,854,023C/Guncertain significance
rs204053197112:64,854,027T/Guncertain significance
rs101093001512:64,854,030A/Cuncertain significance
rs253948257112:64,854,034T/Clikely benign
rs213605667412:64,854,044G/Auncertain significance
rs104299183312:64,854,053G/Auncertain significance
rs54501154612:64,854,056T/Clikely benign
rs76117529312:64,854,079T/Clikely benign
rs14372798812:64,854,082T/Cbenign
rs77703701712:64,854,085C/Glikely benign
rs75125321412:64,854,098A/Guncertain significance
rs213605675012:64,854,113A/Cuncertain significance
rs54843762412:64,854,128A/Glikely benign
rs1117540312:64,857,885G/Alikely benign
rs77704407412:64,858,115C/Tuncertain significance
rs159235635712:64,858,116A/Glikely benign
rs253948878112:64,858,120A/Guncertain significance
rs131177668012:64,858,121C/Guncertain significance
rs253948885912:64,858,138A/Guncertain significance
rs204058085912:64,858,155A/Clikely benign
rs253948895112:64,858,171A/Guncertain significance
rs253948897012:64,858,174G/Auncertain significance
rs156581350712:64,858,175T/Auncertain significance
rs76713405012:64,858,177T/Auncertain significance
rs37195505912:64,858,186C/Guncertain significance
rs129797747612:64,858,197C/Tlikely benign
rs136666878912:64,858,199A/Guncertain significance
rs159235644012:64,858,215T/Clikely benign
rs75720378312:64,858,234C/Tpathogenic
rs13972661412:64,858,235G/Auncertain significance
rs20087980812:64,858,237G/Alikely pathogenic
rs253948909512:64,858,238A/Tuncertain significance
rs53040540212:64,858,247T/Clikely benign
rs213606112412:64,858,248G/Auncertain significance
rs213606113312:64,858,250T/Cuncertain significance
rs20038246712:64,858,256A/Gbenign
rs37355180012:64,858,260A/Glikely benign
rs7565714112:64,858,316A/Tlikely benign
rs11684161812:64,860,437C/Glikely benign
rs18879180612:64,860,447A/Glikely benign
rs7769898512:64,860,637G/Abenign
rs14446285012:64,860,700A/Glikely benign
rs106479717012:64,860,701C/Tstop gainedpathogenic
rs133769847512:64,860,702G/Auncertain significance
rs74984734912:64,860,703A/Clikely benign
rs144563415312:64,860,707A/Guncertain significance
rs159235809212:64,860,722C/Tuncertain significance
rs126468708112:64,860,723G/Auncertain significance
rs204061169012:64,860,724T/Clikely benign
rs253949312612:64,860,726A/Guncertain significance
rs144033926712:64,860,744T/Cuncertain significance
rs102724900212:64,860,749C/Tconflicting classifications of pathogenicity
rs76135900012:64,860,750G/Auncertain significance
rs77626372712:64,860,752G/Auncertain significance
rs4129202112:64,860,759G/Cuncertain significance
rs75143929012:64,860,760G/Alikely benign
rs37280863012:64,860,761G/Alikely benign
rs141300240212:64,860,762A/Guncertain significance
rs76790234012:64,860,769A/Glikely benign
rs5582417212:64,860,774C/Tmissense variantpathogenic
rs20201177112:64,860,776G/Cuncertain significance
rs155520294712:64,860,798G/Crisk factor
rs213606360612:64,860,833G/Auncertain significance
rs7331386912:64,860,841G/Alikely benign
rs213606362912:64,860,849C/Tuncertain significance
rs253949340612:64,860,855A/Guncertain significance
rs213606363112:64,860,857T/Cuncertain significance
rs253950316312:64,867,992T/Clikely benign
rs74773886612:64,868,007T/Guncertain significance
rs159236260912:64,868,017A/Guncertain significance

Showing 100 of 372 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.