IKBKB
inhibitor of nuclear factor kappa B kinase subunit beta
Summary
The protein encoded by this gene phosphorylates the inhibitor in the inhibitor/NF-kappa-B complex, causing dissociation of the inhibitor and activation of NF-kappa-B. The encoded protein itself is found in a complex of proteins. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Sep 2011]
Known Variants600 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201028246 | 8:42,128,899 | G/C | — | likely benign |
| rs1275457168 | 8:42,128,900 | G/A | — | likely benign |
| rs12545246 | 8:42,128,942 | C/T | — | benign |
| rs1292159836 | 8:42,128,948 | C/G | — | likely benign |
| rs565023239 | 8:42,128,966 | T/A | — | likely benign |
| rs901993530 | 8:42,128,982 | C/G | — | uncertain significance |
| rs761298619 | 8:42,128,995 | C/T | — | benign |
| rs3747811 | 8:42,129,505 | A/T | — | benign |
| rs200336151 | 8:42,129,597 | A/G | — | likely benign |
| rs1807904663 | 8:42,129,626 | G/T | — | uncertain significance |
| rs2487009371 | 8:42,129,629 | C/A | — | likely pathogenic |
| rs2487009451 | 8:42,129,631 | C/A | — | uncertain significance |
| rs201805807 | 8:42,129,632 | C/T | — | uncertain significance |
| rs756486665 | 8:42,129,645 | G/A | — | likely benign |
| rs1388981077 | 8:42,129,650 | C/T | — | uncertain significance |
| rs2487009900 | 8:42,129,656 | G/A | — | uncertain significance |
| rs2487009984 | 8:42,129,660 | C/T | — | likely benign |
| rs774657314 | 8:42,129,690 | G/C | — | likely benign |
| rs2487010459 | 8:42,129,699 | A/T | — | likely benign |
| rs1807917822 | 8:42,129,708 | C/G | — | uncertain significance |
| rs200034788 | 8:42,129,711 | A/G | — | likely benign |
| rs200992566 | 8:42,129,731 | C/T | — | conflicting classifications of pathogenicity |
| rs2487011272 | 8:42,129,733 | C/T | — | likely benign |
| rs2487011447 | 8:42,129,741 | C/G | — | likely benign |
| rs772276185 | 8:42,129,742 | T/C | — | likely benign |
| rs5029748 | 8:42,140,549 | G/A | — | — |
| rs1171013915 | 8:42,146,136 | T/C | — | likely benign |
| rs1811919188 | 8:42,146,137 | G/C | — | likely benign |
| rs2487265084 | 8:42,146,145 | T/C | — | likely benign |
| rs1020771795 | 8:42,146,148 | G/T | — | likely benign |
| rs374850898 | 8:42,146,149 | T/C | — | uncertain significance |
| rs144600166 | 8:42,146,157 | A/G | — | likely benign |
| rs2487265871 | 8:42,146,172 | C/T | — | likely benign |
| rs777820763 | 8:42,146,185 | C/T | — | uncertain significance |
| rs1231379660 | 8:42,146,193 | G/A | — | likely benign |
| rs1485660870 | 8:42,146,208 | C/G | — | uncertain significance |
| rs1190950389 | 8:42,146,209 | C/T | — | pathogenic |
| rs192224062 | 8:42,146,211 | A/G | — | likely benign |
| rs1811936122 | 8:42,146,223 | C/T | — | likely benign |
| rs2487266934 | 8:42,146,224 | C/T | — | likely benign |
| rs1811938991 | 8:42,146,253 | G/C | — | likely benign |
| rs2130287493 | 8:42,146,254 | C/G | — | likely benign |
| rs1275345051 | 8:42,146,257 | C/T | — | likely benign |
| rs201140389 | 8:42,146,258 | G/A | — | likely benign |
| rs199634391 | 8:42,146,259 | C/T | — | likely benign |
| rs200656504 | 8:42,146,260 | G/T | — | likely benign |
| rs2487267527 | 8:42,146,261 | C/T | — | likely benign |
| rs781336980 | 8:42,146,262 | A/G | — | likely benign |
| rs2487267610 | 8:42,146,264 | A/T | — | likely benign |
| rs202078453 | 8:42,146,265 | G/C | — | likely benign |
| rs79010730 | 8:42,147,654 | A/G | — | likely benign |
| rs894813595 | 8:42,147,656 | C/T | — | likely benign |
| rs200703112 | 8:42,147,657 | G/A | — | likely benign |
| rs2130309921 | 8:42,147,663 | C/A | — | likely benign |
| rs745680522 | 8:42,147,667 | C/T | — | likely benign |
| rs2487291967 | 8:42,147,668 | T/G | — | likely benign |
| rs2487292120 | 8:42,147,676 | T/G | — | uncertain significance |
| rs2487292229 | 8:42,147,685 | C/T | — | uncertain significance |
| rs2487292259 | 8:42,147,686 | C/G | — | likely benign |
| rs771764280 | 8:42,147,688 | A/G | — | uncertain significance |
| rs2487292327 | 8:42,147,690 | G/A | — | uncertain significance |
| rs200136227 | 8:42,147,703 | G/A | — | uncertain significance |
| rs201017671 | 8:42,147,719 | G/A | — | likely benign |
| rs200048037 | 8:42,147,720 | A/G | — | conflicting classifications of pathogenicity |
| rs201837296 | 8:42,147,734 | G/A | — | likely benign |
| rs2487293188 | 8:42,147,737 | C/T | — | likely benign |
| rs763432993 | 8:42,147,739 | A/G | — | uncertain significance |
| rs2487293369 | 8:42,147,746 | G/T | — | likely benign |
| rs373547989 | 8:42,147,749 | C/T | — | likely benign |
| rs1409313545 | 8:42,147,750 | C/T | — | likely benign |
| rs931318595 | 8:42,147,755 | G/A | — | likely benign |
| rs1812326855 | 8:42,147,786 | C/T | — | uncertain significance |
| rs1446214032 | 8:42,147,787 | G/A | — | uncertain significance |
| rs2487293805 | 8:42,147,788 | G/A | — | likely benign |
| rs755185347 | 8:42,147,790 | A/G | — | uncertain significance |
| rs17875678 | 8:42,147,797 | G/T | — | uncertain significance |
| rs200451212 | 8:42,147,804 | C/T | — | likely benign |
| rs778889553 | 8:42,147,805 | G/A | — | likely benign |
| rs745784014 | 8:42,147,807 | C/T | — | likely benign |
| rs2294097 | 8:42,147,894 | G/A | — | benign |
| rs2294098 | 8:42,148,049 | G/A | — | benign |
| rs759889580 | 8:42,150,941 | G/C | — | likely benign |
| rs199743559 | 8:42,150,951 | T/C | — | likely benign |
| rs2487342867 | 8:42,150,955 | T/C | — | likely benign |
| rs2487342904 | 8:42,150,956 | G/C | — | likely benign |
| rs1383844139 | 8:42,150,983 | G/A | — | uncertain significance |
| rs202223251 | 8:42,150,991 | C/T | — | likely benign |
| rs139712776 | 8:42,150,995 | G/A | — | uncertain significance |
| rs758302357 | 8:42,151,001 | G/A | — | uncertain significance |
| rs2487343763 | 8:42,151,008 | C/T | — | uncertain significance |
| rs200759910 | 8:42,151,010 | T/C | — | uncertain significance |
| rs1460784228 | 8:42,151,022 | G/A | — | uncertain significance |
| rs1813080383 | 8:42,151,024 | G/A | — | uncertain significance |
| rs538376507 | 8:42,151,026 | C/T | — | likely benign |
| rs1813081444 | 8:42,151,027 | A/G | — | uncertain significance |
| rs140937081 | 8:42,151,039 | C/T | — | likely benign |
| rs199999270 | 8:42,151,040 | A/C | — | likely benign |
| rs1813084527 | 8:42,151,043 | C/G | — | likely benign |
| rs747780454 | 8:42,151,045 | C/T | — | likely benign |
| rs200517596 | 8:42,151,046 | G/A | — | likely benign |
Showing 100 of 600 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.