IL13RA1
interleukin 13 receptor subunit alpha 1
Summary
The protein encoded by this gene is a subunit of the interleukin 13 receptor. This subunit forms a receptor complex with IL4 receptor alpha, a subunit shared by IL13 and IL4 receptors. This subunit serves as a primary IL13-binding subunit of the IL13 receptor, and may also be a component of IL4 receptors. This protein has been shown to bind tyrosine kinase TYK2, and thus may mediate the signaling processes that lead to the activation of JAK1, STAT3 and STAT6 induced by IL13 and IL4. [provided by RefSeq, Jul 2008]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2495637 | X:117,860,079 | G/T | — | — |
| rs1425845329 | X:117,861,669 | G/A | — | uncertain significance |
| rs2250747 | X:117,863,748 | A/T | — | — |
| rs5956080 | X:117,871,463 | T/G | upstream gene variant | — |
| rs183467302 | X:117,875,008 | T/A | — | uncertain significance |
| rs2520906473 | X:117,875,097 | A/T | — | uncertain significance |
| rs377169391 | X:117,880,946 | A/G | — | uncertain significance |
| rs145506768 | X:117,883,680 | A/G | — | uncertain significance |
| rs2520926239 | X:117,883,707 | A/G | — | uncertain significance |
| rs762448978 | X:117,883,716 | G/A | — | uncertain significance |
| rs1316982 | X:117,887,798 | A/T | intron variant | — |
| rs760024863 | X:117,892,080 | G/A | — | conflicting classifications of pathogenicity |
| rs767032797 | X:117,892,188 | T/C | — | uncertain significance |
| rs148722500 | X:117,892,202 | C/A | — | uncertain significance |
| rs763322937 | X:117,900,499 | G/A | — | uncertain significance |
| rs193100167 | X:117,900,822 | A/G | — | conflicting classifications of pathogenicity |
| rs771636060 | X:117,904,088 | C/T | — | likely benign |
| rs1209600749 | X:117,904,308 | C/T | — | likely benign |
| rs12853794 | X:117,907,897 | C/T | — | benign |
| rs2520990415 | X:117,910,405 | A/G | — | uncertain significance |
| rs2017781390 | X:117,910,410 | C/G | — | uncertain significance |
| rs748830194 | X:117,910,458 | A/G | — | uncertain significance |
| rs111349573 | X:117,910,480 | A/G | — | benign |
| rs3121671 | X:117,910,545 | A/T | intron variant | — |
| rs3121672 | X:117,916,370 | T/C | intron variant | — |
| rs12688607 | X:117,929,866 | A/G | downstream gene variant | — |
| rs2489879 | X:117,931,358 | A/G | downstream gene variant | — |
| rs765142292 | X:117,932,997 | G/A | — | — |
| rs2262324 | X:117,939,513 | T/G | intergenic variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.