IL33
interleukin 33
Summary
The protein encoded by this gene is a cytokine that binds to the IL1RL1/ST2 receptor. The encoded protein is involved in the maturation of Th2 cells and the activation of mast cells, basophils, eosinophils and natural killer cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs928413 | 9:6,213,387 | G/A | upstream gene variant | — |
| rs142807069 | 9:6,213,820 | A/C | — | — |
| rs1157505 | 9:6,216,240 | C/G | intron variant | — |
| rs1891385 | 9:6,219,845 | A/C | regulatory region variant | — |
| rs16924159 | 9:6,229,417 | G/A | intron variant | — |
| rs16924161 | 9:6,230,912 | T/C | intron variant | — |
| rs12551256 | 9:6,231,239 | A/T | — | — |
| rs7025417 | 9:6,240,084 | T/G | — | — |
| rs754773206 | 9:6,241,704 | A/G | — | uncertain significance |
| rs865842230 | 9:6,241,737 | G/A | — | uncertain significance |
| rs1213823321 | 9:6,241,741 | A/G | — | uncertain significance |
| rs4742170 | 9:6,242,950 | C/T | intron variant | benign |
| rs10975514 | 9:6,246,144 | G/A | intron variant | — |
| rs7037276 | 9:6,247,430 | C/T | regulatory region variant | — |
| rs11792633 | 9:6,248,035 | C/G | — | — |
| rs200883197 | 9:6,250,524 | C/T | — | uncertain significance |
| rs375298218 | 9:6,250,532 | C/A | — | benign |
| rs138513976 | 9:6,250,546 | A/G | — | uncertain significance |
| rs1564071949 | 9:6,251,166 | C/T | — | likely benign |
| rs761806036 | 9:6,251,188 | C/T | — | uncertain significance |
| rs148426449 | 9:6,251,195 | G/C | — | benign |
| rs2489263091 | 9:6,251,218 | C/T | — | uncertain significance |
| rs1929992 | 9:6,251,588 | T/C | intron variant | — |
| rs149045797 | 9:6,252,690 | T/G | intron variant | — |
| rs145823952 | 9:6,252,979 | G/T | — | benign |
| rs763716717 | 9:6,253,553 | T/G | — | uncertain significance |
| rs2489273853 | 9:6,253,560 | T/A | — | uncertain significance |
| rs10975519 | 9:6,253,571 | C/T | synonymous variant | — |
| rs7044343 | 9:6,254,208 | C/T | intron variant | — |
| rs768931199 | 9:6,254,477 | G/C | — | uncertain significance |
| rs374327585 | 9:6,254,512 | G/C | — | uncertain significance |
| rs35277373 | 9:6,254,544 | C/G | — | benign |
| rs995072519 | 9:6,254,551 | G/A | — | uncertain significance |
| rs146597587 | 9:6,255,967 | G/C | splice region variant | — |
| rs193920852 | 9:6,256,067 | G/A | — | uncertain significance |
| rs150296125 | 9:6,256,112 | G/C | — | uncertain significance |
| rs16924241 | 9:6,256,144 | C/G | — | benign |
| rs1048274 | 9:6,256,292 | G/A | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.