TOLLIP
toll interacting protein
Summary
This gene encodes a ubiquitin-binding protein that interacts with several Toll-like receptor (TLR) signaling cascade components. The encoded protein regulates inflammatory signaling and is involved in interleukin-1 receptor trafficking and in the turnover of IL1R-associated kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs539299860 | 11:1,295,221 | A/G | — | — |
| rs111986008 | 11:1,298,304 | T/C | — | benign |
| rs146354036 | 11:1,298,307 | C/T | — | uncertain significance |
| rs2494310728 | 11:1,298,315 | T/C | — | likely benign |
| rs1378528584 | 11:1,298,383 | G/C | — | uncertain significance |
| rs764384006 | 11:1,298,421 | C/A | — | uncertain significance |
| rs762377289 | 11:1,298,427 | C/T | — | uncertain significance |
| rs3793964 | 11:1,301,982 | T/C | intron variant | — |
| rs149336361 | 11:1,307,253 | C/T | — | uncertain significance |
| rs146176131 | 11:1,307,286 | C/T | — | uncertain significance |
| rs538679105 | 11:1,307,307 | T/C | — | uncertain significance |
| rs144024538 | 11:1,309,868 | C/T | — | uncertain significance |
| rs746207071 | 11:1,309,924 | T/C | — | uncertain significance |
| rs780732936 | 11:1,309,933 | A/T | — | uncertain significance |
| rs749743149 | 11:1,309,934 | C/T | — | uncertain significance |
| rs3750920 | 11:1,309,956 | C/A | synonymous variant | — |
| rs926744561 | 11:1,311,494 | G/A | — | uncertain significance |
| rs772949834 | 11:1,311,528 | G/A | — | uncertain significance |
| rs372163559 | 11:1,311,570 | C/T | — | uncertain significance |
| rs749248053 | 11:1,311,572 | G/A | — | uncertain significance |
| rs149174945 | 11:1,311,590 | C/T | — | uncertain significance |
| rs111521887 | 11:1,312,706 | C/G | intron variant | association |
| rs772622731 | 11:1,316,912 | A/T | — | uncertain significance |
| rs747426885 | 11:1,316,990 | C/A | — | uncertain significance |
| rs5743899 | 11:1,323,564 | C/T | intron variant | — |
| rs5743894 | 11:1,324,772 | T/A | — | — |
| rs5743890 | 11:1,325,829 | T/C | regulatory region variant | uncertain significance |
| rs5743867 | 11:1,328,351 | G/A | regulatory region variant | — |
| rs1316668634 | 11:1,330,697 | G/C | — | uncertain significance |
| rs1263008762 | 11:1,330,703 | C/T | — | uncertain significance |
| rs745957373 | 11:1,330,721 | G/A | — | uncertain significance |
| rs5743854 | 11:1,331,254 | C/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.