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
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs79531778 | 12:64,849,517 | A/T | — | likely benign |
| rs2539476572 | 12:64,849,652 | T/C | — | uncertain significance |
| rs1555201919 | 12:64,849,654 | C/T | — | pathogenic |
| rs2539476580 | 12:64,849,655 | A/G | — | uncertain significance |
| rs115692983 | 12:64,849,659 | C/T | — | likely benign |
| rs764400429 | 12:64,849,664 | C/A | — | uncertain significance |
| rs781325780 | 12:64,849,690 | A/G | — | uncertain significance |
| rs2136052738 | 12:64,849,691 | T/C | — | uncertain significance |
| rs769584803 | 12:64,849,701 | A/G | — | uncertain significance |
| rs576726084 | 12:64,849,714 | A/G | — | uncertain significance |
| rs41292019 | 12:64,849,716 | T/C | — | benign |
| rs1157085287 | 12:64,849,717 | G/A | — | uncertain significance |
| rs749461125 | 12:64,849,723 | C/T | — | uncertain significance |
| rs2539476741 | 12:64,849,729 | A/G | — | uncertain significance |
| rs1592350887 | 12:64,849,737 | G/A | — | pathogenic |
| rs148982416 | 12:64,849,745 | C/T | — | likely benign |
| rs376281833 | 12:64,849,754 | C/T | — | likely benign |
| rs143743442 | 12:64,849,786 | G/C | — | likely benign |
| rs7298226 | 12:64,849,868 | C/T | — | benign |
| rs75977259 | 12:64,851,568 | A/G | — | benign |
| rs758061744 | 12:64,853,960 | T/C | — | likely benign |
| rs766191031 | 12:64,853,965 | A/G | — | likely benign |
| rs1943095779 | 12:64,853,975 | G/A | — | uncertain significance |
| rs2539482429 | 12:64,853,982 | T/G | — | pathogenic |
| rs202056661 | 12:64,853,989 | T/C | — | likely benign |
| rs780879936 | 12:64,853,990 | A/G | — | uncertain significance |
| rs2136056628 | 12:64,853,991 | T/G | — | uncertain significance |
| rs748061846 | 12:64,854,006 | A/G | — | conflicting classifications of pathogenicity |
| rs756011825 | 12:64,854,009 | T/G | — | uncertain significance |
| rs11538420 | 12:64,854,016 | C/T | — | likely benign |
| rs2136056652 | 12:64,854,023 | C/G | — | uncertain significance |
| rs2040531971 | 12:64,854,027 | T/G | — | uncertain significance |
| rs1010930015 | 12:64,854,030 | A/C | — | uncertain significance |
| rs2539482571 | 12:64,854,034 | T/C | — | likely benign |
| rs2136056674 | 12:64,854,044 | G/A | — | uncertain significance |
| rs1042991833 | 12:64,854,053 | G/A | — | uncertain significance |
| rs545011546 | 12:64,854,056 | T/C | — | likely benign |
| rs761175293 | 12:64,854,079 | T/C | — | likely benign |
| rs143727988 | 12:64,854,082 | T/C | — | benign |
| rs777037017 | 12:64,854,085 | C/G | — | likely benign |
| rs751253214 | 12:64,854,098 | A/G | — | uncertain significance |
| rs2136056750 | 12:64,854,113 | A/C | — | uncertain significance |
| rs548437624 | 12:64,854,128 | A/G | — | likely benign |
| rs11175403 | 12:64,857,885 | G/A | — | likely benign |
| rs777044074 | 12:64,858,115 | C/T | — | uncertain significance |
| rs1592356357 | 12:64,858,116 | A/G | — | likely benign |
| rs2539488781 | 12:64,858,120 | A/G | — | uncertain significance |
| rs1311776680 | 12:64,858,121 | C/G | — | uncertain significance |
| rs2539488859 | 12:64,858,138 | A/G | — | uncertain significance |
| rs2040580859 | 12:64,858,155 | A/C | — | likely benign |
| rs2539488951 | 12:64,858,171 | A/G | — | uncertain significance |
| rs2539488970 | 12:64,858,174 | G/A | — | uncertain significance |
| rs1565813507 | 12:64,858,175 | T/A | — | uncertain significance |
| rs767134050 | 12:64,858,177 | T/A | — | uncertain significance |
| rs371955059 | 12:64,858,186 | C/G | — | uncertain significance |
| rs1297977476 | 12:64,858,197 | C/T | — | likely benign |
| rs1366668789 | 12:64,858,199 | A/G | — | uncertain significance |
| rs1592356440 | 12:64,858,215 | T/C | — | likely benign |
| rs757203783 | 12:64,858,234 | C/T | — | pathogenic |
| rs139726614 | 12:64,858,235 | G/A | — | uncertain significance |
| rs200879808 | 12:64,858,237 | G/A | — | likely pathogenic |
| rs2539489095 | 12:64,858,238 | A/T | — | uncertain significance |
| rs530405402 | 12:64,858,247 | T/C | — | likely benign |
| rs2136061124 | 12:64,858,248 | G/A | — | uncertain significance |
| rs2136061133 | 12:64,858,250 | T/C | — | uncertain significance |
| rs200382467 | 12:64,858,256 | A/G | — | benign |
| rs373551800 | 12:64,858,260 | A/G | — | likely benign |
| rs75657141 | 12:64,858,316 | A/T | — | likely benign |
| rs116841618 | 12:64,860,437 | C/G | — | likely benign |
| rs188791806 | 12:64,860,447 | A/G | — | likely benign |
| rs77698985 | 12:64,860,637 | G/A | — | benign |
| rs144462850 | 12:64,860,700 | A/G | — | likely benign |
| rs1064797170 | 12:64,860,701 | C/T | stop gained | pathogenic |
| rs1337698475 | 12:64,860,702 | G/A | — | uncertain significance |
| rs749847349 | 12:64,860,703 | A/C | — | likely benign |
| rs1445634153 | 12:64,860,707 | A/G | — | uncertain significance |
| rs1592358092 | 12:64,860,722 | C/T | — | uncertain significance |
| rs1264687081 | 12:64,860,723 | G/A | — | uncertain significance |
| rs2040611690 | 12:64,860,724 | T/C | — | likely benign |
| rs2539493126 | 12:64,860,726 | A/G | — | uncertain significance |
| rs1440339267 | 12:64,860,744 | T/C | — | uncertain significance |
| rs1027249002 | 12:64,860,749 | C/T | — | conflicting classifications of pathogenicity |
| rs761359000 | 12:64,860,750 | G/A | — | uncertain significance |
| rs776263727 | 12:64,860,752 | G/A | — | uncertain significance |
| rs41292021 | 12:64,860,759 | G/C | — | uncertain significance |
| rs751439290 | 12:64,860,760 | G/A | — | likely benign |
| rs372808630 | 12:64,860,761 | G/A | — | likely benign |
| rs1413002402 | 12:64,860,762 | A/G | — | uncertain significance |
| rs767902340 | 12:64,860,769 | A/G | — | likely benign |
| rs55824172 | 12:64,860,774 | C/T | missense variant | pathogenic |
| rs202011771 | 12:64,860,776 | G/C | — | uncertain significance |
| rs1555202947 | 12:64,860,798 | G/C | — | risk factor |
| rs2136063606 | 12:64,860,833 | G/A | — | uncertain significance |
| rs73313869 | 12:64,860,841 | G/A | — | likely benign |
| rs2136063629 | 12:64,860,849 | C/T | — | uncertain significance |
| rs2539493406 | 12:64,860,855 | A/G | — | uncertain significance |
| rs2136063631 | 12:64,860,857 | T/C | — | uncertain significance |
| rs2539503163 | 12:64,867,992 | T/C | — | likely benign |
| rs747738866 | 12:64,868,007 | T/G | — | uncertain significance |
| rs1592362609 | 12:64,868,017 | A/G | — | uncertain significance |
Showing 100 of 372 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.