RIPK2
receptor interacting serine/threonine kinase 2
Summary
This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein contains a C-terminal caspase activation and recruitment domain (CARD), and is a component of signaling complexes in both the innate and adaptive immune pathways. It is a potent activator of NF-kappaB and inducer of apoptosis in response to various stimuli. [provided by RefSeq, Jul 2008]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2487892478 | 8:90,770,434 | T/G | — | uncertain significance |
| rs39761 | 8:90,772,920 | T/C | upstream gene variant | — |
| rs1374082877 | 8:90,775,152 | T/G | — | uncertain significance |
| rs200736854 | 8:90,775,183 | T/C | — | likely benign |
| rs200818100 | 8:90,775,193 | A/G | — | uncertain significance |
| rs999825939 | 8:90,777,711 | A/G | — | uncertain significance |
| rs42490 | 8:90,778,513 | G/A | intron variant | uncertain risk allele |
| rs766308833 | 8:90,782,028 | G/A | — | uncertain significance |
| rs751621342 | 8:90,782,030 | A/G | — | uncertain significance |
| rs141768697 | 8:90,782,031 | T/C | — | uncertain significance |
| rs56257721 | 8:90,782,128 | A/T | — | benign |
| rs1420296684 | 8:90,784,990 | G/A | — | uncertain significance |
| rs368538168 | 8:90,784,993 | C/T | — | uncertain significance |
| rs766384952 | 8:90,784,994 | G/A | — | likely benign |
| rs35004667 | 8:90,785,005 | C/G | — | benign |
| rs1809336002 | 8:90,785,018 | G/A | — | uncertain significance |
| rs1280503756 | 8:90,792,384 | C/T | — | uncertain significance |
| rs199850869 | 8:90,796,347 | G/A | — | uncertain significance |
| rs2487948549 | 8:90,798,855 | G/C | — | uncertain significance |
| rs368231600 | 8:90,801,572 | A/G | — | uncertain significance |
| rs994836045 | 8:90,801,644 | T/C | — | uncertain significance |
| rs200397135 | 8:90,801,695 | A/G | — | likely benign |
| rs200769968 | 8:90,802,346 | G/A | — | uncertain significance |
| rs151303469 | 8:90,802,397 | C/T | — | uncertain significance |
| rs2487956196 | 8:90,802,477 | A/G | — | uncertain significance |
| rs40457 | 8:90,823,687 | A/G | intergenic variant | uncertain risk allele |
Gene information from NCBI Gene. Variant classifications from ClinVar.