IL11RA
interleukin 11 receptor subunit alpha
Summary
Interleukin 11 is a stromal cell-derived cytokine that belongs to a family of pleiotropic and redundant cytokines that use the gp130 transducing subunit in their high affinity receptors. This gene encodes the IL-11 receptor, which is a member of the hematopoietic cytokine receptor family. This particular receptor is very similar to ciliary neurotrophic factor, since both contain an extracellular region with a 2-domain structure composed of an immunoglobulin-like domain and a cytokine receptor-like domain. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]
Known Variants77 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1061758 | 9:34,652,330 | A/G | regulatory region variant | — |
| rs1470928377 | 9:34,655,217 | G/A | — | likely pathogenic |
| rs2492893745 | 9:34,655,244 | G/A | — | likely benign |
| rs746537135 | 9:34,655,274 | G/A | — | likely benign |
| rs34893971 | 9:34,655,286 | C/T | — | likely benign |
| rs1821323078 | 9:34,655,313 | A/C | — | likely benign |
| rs2812357 | 9:34,655,436 | T/C | — | benign |
| rs76429508 | 9:34,655,629 | C/T | — | likely benign |
| rs780569801 | 9:34,655,654 | G/C | — | likely benign |
| rs571523950 | 9:34,655,660 | C/T | — | benign |
| rs11575576 | 9:34,655,734 | T/G | — | benign |
| rs11575578 | 9:34,656,479 | G/A | — | benign |
| rs11575588 | 9:34,656,728 | A/C | — | benign |
| rs1821349181 | 9:34,656,734 | A/T | — | likely pathogenic |
| rs11575589 | 9:34,656,767 | C/A | — | benign |
| rs1587246279 | 9:34,656,775 | G/A | — | likely benign |
| rs2492899892 | 9:34,656,843 | G/A | — | uncertain significance |
| rs369630361 | 9:34,656,855 | G/T | — | likely pathogenic |
| rs979295919 | 9:34,656,880 | G/A | — | likely benign |
| rs1554710108 | 9:34,656,907 | T/C | — | uncertain significance |
| rs2492900300 | 9:34,656,911 | T/G | — | pathogenic |
| rs200580340 | 9:34,657,043 | C/T | — | conflicting classifications of pathogenicity |
| rs201997285 | 9:34,657,044 | G/A | — | conflicting classifications of pathogenicity |
| rs1465759522 | 9:34,657,047 | C/T | — | uncertain significance |
| rs1168683694 | 9:34,657,065 | C/T | — | uncertain significance |
| rs750878767 | 9:34,657,066 | A/G | — | likely benign |
| rs113716899 | 9:34,657,069 | C/T | — | likely benign |
| rs1208958651 | 9:34,657,100 | C/T | — | uncertain significance |
| rs377421299 | 9:34,657,127 | C/T | — | uncertain significance |
| rs1342217350 | 9:34,657,164 | T/G | — | likely benign |
| rs2492902012 | 9:34,657,294 | C/T | — | uncertain significance |
| rs387906787 | 9:34,657,328 | C/G | missense variant | pathogenic |
| rs199757118 | 9:34,657,333 | G/A | — | uncertain significance |
| rs761240511 | 9:34,657,339 | C/T | — | likely benign |
| rs11575590 | 9:34,657,390 | A/G | — | benign |
| rs11575591 | 9:34,657,395 | A/G | — | benign |
| rs139902799 | 9:34,657,436 | G/C | — | likely benign |
| rs375021779 | 9:34,657,470 | G/T | — | uncertain significance |
| rs143377309 | 9:34,657,473 | C/T | — | conflicting classifications of pathogenicity |
| rs753271645 | 9:34,657,474 | G/A | — | uncertain significance |
| rs148556750 | 9:34,657,485 | C/T | — | uncertain significance |
| rs1104748 | 9:34,657,663 | C/T | — | benign |
| rs11575592 | 9:34,657,726 | G/C | — | benign |
| rs1104749 | 9:34,658,421 | T/A | — | benign |
| rs387906785 | 9:34,658,532 | C/G | missense variant | pathogenic |
| rs74968235 | 9:34,658,562 | G/A | — | benign |
| rs775348905 | 9:34,658,579 | C/T | — | pathogenic |
| rs762758259 | 9:34,658,580 | G/A | — | uncertain significance |
| rs751261670 | 9:34,658,588 | T/G | — | uncertain significance |
| rs140455675 | 9:34,658,593 | A/G | — | likely benign |
| rs1360163592 | 9:34,658,597 | C/A | — | uncertain significance |
| rs387906786 | 9:34,658,604 | C/G | missense variant | pathogenic |
| rs139449152 | 9:34,658,611 | G/A | — | likely benign |
| rs201638429 | 9:34,658,651 | C/T | — | conflicting classifications of pathogenicity |
| rs117149170 | 9:34,658,652 | G/A | — | likely benign |
| rs753306721 | 9:34,658,679 | C/T | — | uncertain significance |
| rs1258408605 | 9:34,658,680 | G/A | — | likely pathogenic |
| rs11575579 | 9:34,659,452 | G/T | — | benign |
| rs11575593 | 9:34,659,562 | T/C | — | likely benign |
| rs200169943 | 9:34,659,754 | A/T | — | pathogenic |
| rs747505958 | 9:34,659,811 | A/G | — | pathogenic |
| rs387906784 | 9:34,659,831 | C/T | missense variant | pathogenic |
| rs202184326 | 9:34,659,839 | T/C | — | likely benign |
| rs2492911303 | 9:34,659,864 | T/C | — | pathogenic |
| rs769307011 | 9:34,659,872 | G/A | — | likely benign |
| rs41313780 | 9:34,660,202 | C/T | — | likely benign |
| rs200369324 | 9:34,660,291 | C/A | — | uncertain significance |
| rs373290583 | 9:34,660,371 | A/G | — | likely benign |
| rs148186329 | 9:34,660,381 | C/T | — | likely benign |
| rs371336564 | 9:34,660,402 | C/A | — | likely benign |
| rs753830066 | 9:34,660,585 | C/A | — | uncertain significance |
| rs11575580 | 9:34,660,864 | C/T | missense variant | benign |
| rs780640758 | 9:34,660,865 | G/A | — | uncertain significance |
| rs2492920838 | 9:34,660,875 | G/A | — | likely benign |
| rs201133341 | 9:34,660,908 | A/G | — | benign |
| rs370016957 | 9:34,660,942 | G/A | — | likely benign |
| rs11336 | 9:34,661,678 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.