IKBKE
inhibitor of nuclear factor kappa B kinase subunit epsilon
Summary
IKBKE is a noncanonical I-kappa-B (see MIM 164008) kinase (IKK) that is essential for regulating antiviral signaling pathways. IKBKE has also been identified as a breast cancer (MIM 114480) oncogene and is amplified and overexpressed in over 30% of breast carcinomas and breast cancer cell lines (Hutti et al., 2009 [PubMed 19481526]).[supplied by OMIM, Oct 2009]
Known Variants50 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2528812270 | 1:206,646,622 | G/A | — | uncertain significance |
| rs41295990 | 1:206,646,666 | C/A | — | benign |
| rs1539241 | 1:206,647,450 | A/G | intron variant | — |
| rs56035621 | 1:206,647,722 | C/T | — | likely benign |
| rs1553384595 | 1:206,647,723 | T/C | — | uncertain significance |
| rs367771392 | 1:206,647,725 | C/T | — | uncertain significance |
| rs150428746 | 1:206,647,732 | G/A | — | uncertain significance |
| rs782640857 | 1:206,647,765 | G/A | — | uncertain significance |
| rs1539243 | 1:206,647,787 | T/C | synonymous variant | — |
| rs781937364 | 1:206,647,788 | G/A | — | likely benign |
| rs554685342 | 1:206,647,813 | C/T | — | uncertain significance |
| rs41296028 | 1:206,649,547 | G/A | — | uncertain significance |
| rs1665057636 | 1:206,649,607 | G/C | — | uncertain significance |
| rs202057912 | 1:206,649,669 | G/T | — | uncertain significance |
| rs41296030 | 1:206,649,681 | G/A | — | benign |
| rs187136164 | 1:206,650,016 | G/A | — | uncertain significance |
| rs1665085112 | 1:206,650,054 | A/G | — | uncertain significance |
| rs2103455807 | 1:206,650,057 | C/T | — | uncertain significance |
| rs782265530 | 1:206,650,070 | C/T | — | uncertain significance |
| rs1451035448 | 1:206,650,075 | G/A | — | uncertain significance |
| rs189899329 | 1:206,650,186 | G/A | — | likely benign |
| rs1553385810 | 1:206,651,135 | G/A | — | likely benign |
| rs1553385836 | 1:206,651,153 | G/A | — | uncertain significance |
| rs782067873 | 1:206,651,177 | C/T | — | uncertain significance |
| rs1325559311 | 1:206,651,593 | G/C | — | uncertain significance |
| rs41296042 | 1:206,651,596 | C/T | — | benign |
| rs2103460989 | 1:206,652,340 | C/A | — | uncertain significance |
| rs2297542 | 1:206,652,427 | C/G | — | benign |
| rs1399315851 | 1:206,653,266 | A/T | — | uncertain significance |
| rs376382831 | 1:206,653,377 | G/A | — | uncertain significance |
| rs1312663807 | 1:206,653,380 | G/A | — | uncertain significance |
| rs200663079 | 1:206,653,438 | G/A | — | uncertain significance |
| rs150772428 | 1:206,653,794 | G/A | — | uncertain significance |
| rs2528862570 | 1:206,653,807 | C/A | — | uncertain significance |
| rs782313349 | 1:206,653,816 | G/A | — | uncertain significance |
| rs1553386802 | 1:206,653,856 | C/A | — | uncertain significance |
| rs113419720 | 1:206,654,563 | C/T | regulatory region variant | — |
| rs41298997 | 1:206,655,331 | C/T | intron variant | — |
| rs11118057 | 1:206,655,363 | T/C | — | — |
| rs12142086 | 1:206,657,802 | T/C | intron variant | — |
| rs782157591 | 1:206,658,378 | C/T | — | likely benign |
| rs2528942863 | 1:206,666,417 | A/G | — | uncertain significance |
| rs782547285 | 1:206,666,439 | A/G | — | uncertain significance |
| rs1302996739 | 1:206,666,618 | A/G | — | uncertain significance |
| rs781801550 | 1:206,666,619 | C/G | — | uncertain significance |
| rs565925188 | 1:206,666,639 | C/T | — | uncertain significance |
| rs782009287 | 1:206,666,654 | C/T | — | uncertain significance |
| rs1666050536 | 1:206,666,666 | C/G | — | uncertain significance |
| rs200362703 | 1:206,667,306 | A/G | — | uncertain significance |
| rs1553391457 | 1:206,667,320 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.