TLR3
toll like receptor 3
Summary
The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor is most abundantly expressed in placenta and pancreas, and is restricted to the dendritic subpopulation of the leukocytes. It recognizes dsRNA associated with viral infection, and induces the activation of NF-kappaB and the production of type I interferons. It thus plays a role in host defense against multiple viruses. [provided by RefSeq, Jul 2021]
Known Variants407 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs147725378 | 4:186,988,659 | G/A | upstream gene variant | — |
| rs5743303 | 4:186,988,853 | A/T | upstream gene variant | — |
| rs5743305 | 4:186,989,333 | T/A | regulatory region variant | — |
| rs189127426 | 4:186,991,001 | A/G | intron variant | — |
| rs11721827 | 4:186,991,137 | A/G | — | — |
| rs147368202 | 4:186,992,131 | G/A | intron variant | — |
| rs7657186 | 4:186,994,039 | G/A | intron variant | — |
| rs13126816 | 4:186,994,178 | G/A | intron variant | — |
| rs184101243 | 4:186,995,172 | A/G | intron variant | — |
| rs113971089 | 4:186,997,273 | A/C | — | — |
| rs3775296 | 4:186,997,767 | C/A | splice region variant | benign |
| rs776400293 | 4:186,997,774 | A/G | — | uncertain significance |
| rs2099302499 | 4:186,997,790 | C/T | — | uncertain significance |
| rs192262541 | 4:186,997,797 | C/T | — | likely benign |
| rs750233576 | 4:186,997,805 | G/T | — | uncertain significance |
| rs755127843 | 4:186,997,806 | G/C | — | uncertain significance |
| rs199539539 | 4:186,997,807 | G/C | — | likely benign |
| rs371978453 | 4:186,997,811 | G/A | — | uncertain significance |
| rs369957478 | 4:186,997,812 | C/T | — | likely benign |
| rs149602022 | 4:186,997,817 | T/G | — | likely benign |
| rs1279991080 | 4:186,997,834 | T/C | — | uncertain significance |
| rs146166844 | 4:186,997,839 | A/G | — | likely benign |
| rs772953712 | 4:186,997,844 | C/T | — | uncertain significance |
| rs762762392 | 4:186,997,845 | C/T | — | likely benign |
| rs2099302516 | 4:186,997,859 | C/T | — | uncertain significance |
| rs929907117 | 4:186,997,862 | T/G | — | uncertain significance |
| rs2099302517 | 4:186,997,863 | T/C | — | likely benign |
| rs752889035 | 4:186,997,882 | T/C | — | uncertain significance |
| rs267600111 | 4:186,997,911 | C/T | — | likely benign |
| rs757662803 | 4:186,997,912 | G/A | — | uncertain significance |
| rs770261956 | 4:186,997,913 | A/T | — | uncertain significance |
| rs2150066315 | 4:186,997,917 | T/C | — | likely benign |
| rs2478210355 | 4:186,997,927 | A/G | — | uncertain significance |
| rs1221000109 | 4:186,997,930 | A/C | — | uncertain significance |
| rs139854420 | 4:186,997,938 | G/A | — | likely benign |
| rs780632564 | 4:186,997,947 | T/C | — | likely benign |
| rs143307508 | 4:186,997,949 | C/A | — | uncertain significance |
| rs768368875 | 4:186,997,950 | C/T | — | likely benign |
| rs780502519 | 4:186,997,953 | T/A | — | uncertain significance |
| rs1426754278 | 4:186,997,966 | A/C | — | likely benign |
| rs762922535 | 4:186,997,978 | G/A | — | uncertain significance |
| rs2150066346 | 4:186,998,011 | T/C | — | likely benign |
| rs947295812 | 4:186,998,015 | A/G | — | uncertain significance |
| rs753810019 | 4:186,998,016 | T/C | — | likely benign |
| rs749653770 | 4:186,998,029 | A/T | — | uncertain significance |
| rs2099302537 | 4:186,998,032 | A/G | — | uncertain significance |
| rs967601262 | 4:186,998,039 | A/C | — | uncertain significance |
| rs1407442968 | 4:186,998,060 | A/G | — | uncertain significance |
| rs1450040301 | 4:186,998,066 | T/A | — | uncertain significance |
| rs754548817 | 4:186,998,068 | C/G | — | uncertain significance |
| rs150769655 | 4:186,998,071 | A/T | — | uncertain significance |
| rs2099302549 | 4:186,998,103 | G/A | — | likely benign |
| rs745694858 | 4:186,998,106 | A/G | — | likely benign |
| rs2478210921 | 4:186,998,108 | C/T | — | uncertain significance |
| rs559783546 | 4:186,998,111 | A/C | — | uncertain significance |
| rs140176180 | 4:186,998,119 | G/A | — | likely benign |
| rs375996512 | 4:186,998,133 | C/T | — | likely benign |
| rs202236935 | 4:186,998,141 | C/T | — | uncertain significance |
| rs763487767 | 4:186,998,142 | G/A | — | likely benign |
| rs201726068 | 4:186,998,160 | T/C | — | likely benign |
| rs1443920234 | 4:186,998,165 | T/C | — | uncertain significance |
| rs2478211090 | 4:186,998,168 | C/G | — | uncertain significance |
| rs2478211111 | 4:186,998,184 | A/G | — | likely benign |
| rs2099302564 | 4:186,998,188 | A/T | — | uncertain significance |
| rs752393845 | 4:186,998,194 | A/G | — | uncertain significance |
| rs2478211190 | 4:186,998,214 | G/A | — | uncertain significance |
| rs2099302567 | 4:186,998,215 | G/T | — | uncertain significance |
| rs143625567 | 4:186,998,217 | A/G | — | conflicting classifications of pathogenicity |
| rs146309386 | 4:186,998,453 | C/T | intron variant | — |
| rs6811484 | 4:186,999,088 | A/G | intron variant | — |
| rs2478215346 | 4:186,999,978 | T/C | — | likely benign |
| rs1579728263 | 4:186,999,986 | C/T | — | likely benign |
| rs766617165 | 4:186,999,987 | C/G | — | likely benign |
| rs371056976 | 4:186,999,988 | C/G | — | likely benign |
| rs760031786 | 4:186,999,991 | C/T | — | uncertain significance |
| rs2099302909 | 4:187,000,000 | A/T | — | uncertain significance |
| rs149945790 | 4:187,000,002 | C/T | — | likely benign |
| rs1404118242 | 4:187,000,005 | A/G | — | likely benign |
| rs755720044 | 4:187,000,010 | A/C | — | uncertain significance |
| rs763756287 | 4:187,000,012 | C/T | — | likely benign |
| rs1248928733 | 4:187,000,019 | A/G | — | uncertain significance |
| rs145104245 | 4:187,000,040 | A/C | — | uncertain significance |
| rs2478215576 | 4:187,000,045 | G/A | — | uncertain significance |
| rs2099302923 | 4:187,000,051 | C/T | — | uncertain significance |
| rs2478215612 | 4:187,000,072 | C/G | — | uncertain significance |
| rs1267396880 | 4:187,000,074 | A/C | — | uncertain significance |
| rs778120843 | 4:187,000,078 | C/T | — | uncertain significance |
| rs2478215631 | 4:187,000,080 | T/G | — | likely benign |
| rs2150066810 | 4:187,000,087 | T/G | — | uncertain significance |
| rs2478215651 | 4:187,000,091 | A/G | — | uncertain significance |
| rs2478215654 | 4:187,000,095 | T/C | — | likely benign |
| rs2478215666 | 4:187,000,104 | A/C | — | likely benign |
| rs35140061 | 4:187,000,106 | C/T | — | uncertain significance |
| rs545122782 | 4:187,000,107 | G/C | — | likely benign |
| rs2478215715 | 4:187,000,115 | G/A | — | uncertain significance |
| rs753482575 | 4:187,000,149 | A/T | — | uncertain significance |
| rs5743311 | 4:187,000,164 | G/A | synonymous variant | likely benign |
| rs749906306 | 4:187,000,165 | T/A | — | uncertain significance |
| rs1341240315 | 4:187,000,184 | A/T | — | uncertain significance |
| rs1399238369 | 4:187,000,185 | G/C | — | uncertain significance |
Showing 100 of 407 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.