NFKBIE
NFKB inhibitor epsilon
Summary
The protein encoded by this gene binds to components of NF-kappa-B, trapping the complex in the cytoplasm and preventing it from activating genes in the nucleus. Phosphorylation of the encoded protein targets it for destruction by the ubiquitin pathway, which activates NF-kappa-B by making it available to translocate to the nucleus. [provided by RefSeq, Sep 2011]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2282151 | 6:44,226,195 | T/C | regulatory region variant | — |
| rs1241410961 | 6:44,227,994 | A/G | — | uncertain significance |
| rs2233437 | 6:44,228,162 | G/A | regulatory region variant | — |
| rs775439092 | 6:44,229,423 | G/A | — | uncertain significance |
| rs1781927597 | 6:44,229,467 | C/T | — | uncertain significance |
| rs538453423 | 6:44,229,498 | G/A | — | uncertain significance |
| rs142279662 | 6:44,229,512 | C/G | — | uncertain significance |
| rs730775 | 6:44,232,074 | A/C | — | — |
| rs2233435 | 6:44,232,733 | G/A | — | likely benign |
| rs755202910 | 6:44,232,824 | C/A | — | uncertain significance |
| rs1183880003 | 6:44,232,830 | A/G | — | uncertain significance |
| rs114679096 | 6:44,232,889 | A/T | — | uncertain significance |
| rs776545801 | 6:44,232,916 | C/A | — | uncertain significance |
| rs2233434 | 6:44,232,920 | A/G | missense variant | — |
| rs769415987 | 6:44,233,073 | G/A | — | uncertain significance |
| rs1413323258 | 6:44,233,095 | T/C | — | likely benign |
| rs377641691 | 6:44,233,110 | C/G | — | uncertain significance |
| rs150336744 | 6:44,233,136 | C/T | — | uncertain significance |
| rs758527854 | 6:44,233,137 | T/G | — | uncertain significance |
| rs2534385844 | 6:44,233,151 | T/A | — | uncertain significance |
| rs28362857 | 6:44,233,216 | G/A | synonymous variant | — |
| rs777228950 | 6:44,233,235 | G/A | — | uncertain significance |
| rs755979138 | 6:44,233,299 | G/A | — | uncertain significance |
| rs763426286 | 6:44,233,350 | G/C | — | uncertain significance |
| rs769091327 | 6:44,233,361 | C/T | — | uncertain significance |
| rs1451534927 | 6:44,233,391 | C/G | — | uncertain significance |
| rs2233430 | 6:44,233,403 | G/A | — | benign |
| rs1463911612 | 6:44,233,434 | T/G | — | uncertain significance |
| rs1782114134 | 6:44,233,467 | T/C | — | uncertain significance |
| rs2233424 | 6:44,233,921 | C/G | — | — |
| rs28362855 | 6:44,234,621 | G/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.