TLR1
toll like receptor 1
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 gene is ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. [provided by RefSeq, Jul 2008]
Known Variants89 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs28690449 | 4:38,789,132 | C/T | upstream gene variant | — |
| rs6531663 | 4:38,792,340 | T/G | coding sequence variant | — |
| rs4543123 | 4:38,792,524 | A/G | coding sequence variant | — |
| rs2529506893 | 4:38,798,144 | G/C | — | uncertain significance |
| rs778804422 | 4:38,798,169 | T/C | — | uncertain significance |
| rs1726075700 | 4:38,798,222 | T/C | — | uncertain significance |
| rs113706342 | 4:38,798,294 | G/T | — | likely benign |
| rs1268347351 | 4:38,798,304 | T/A | — | uncertain significance |
| rs747598922 | 4:38,798,306 | T/C | — | uncertain significance |
| rs1220763859 | 4:38,798,361 | A/C | — | uncertain significance |
| rs757430331 | 4:38,798,381 | T/C | — | uncertain significance |
| rs187624160 | 4:38,798,399 | G/A | — | uncertain significance |
| rs56205407 | 4:38,798,417 | A/G | — | pathogenic |
| rs41311400 | 4:38,798,425 | G/A | — | likely benign |
| rs137853175 | 4:38,798,433 | C/T | — | not provided |
| rs137853174 | 4:38,798,501 | A/G | — | not provided |
| rs72493538 | 4:38,798,515 | G/A | — | benign |
| rs768377863 | 4:38,798,525 | T/C | — | uncertain significance |
| rs190895342 | 4:38,798,551 | A/G | — | likely benign |
| rs144775976 | 4:38,798,595 | G/C | — | uncertain significance |
| rs5743618 | 4:38,798,648 | C/A | missense variant | benign |
| rs143576765 | 4:38,798,657 | G/A | — | uncertain significance |
| rs2529514853 | 4:38,798,684 | A/G | — | uncertain significance |
| rs753422993 | 4:38,798,685 | T/C | — | likely benign |
| rs375868027 | 4:38,798,689 | G/A | — | likely benign |
| rs5743617 | 4:38,798,693 | A/C | — | benign |
| rs2529515013 | 4:38,798,698 | G/A | — | likely benign |
| rs137853173 | 4:38,798,792 | T/C | — | not provided |
| rs2529516233 | 4:38,798,797 | A/C | — | uncertain significance |
| rs2529516325 | 4:38,798,807 | C/T | — | likely benign |
| rs137853172 | 4:38,798,828 | A/G | — | benign |
| rs200506989 | 4:38,798,856 | C/T | — | likely benign |
| rs5743615 | 4:38,798,869 | A/G | — | benign |
| rs187823248 | 4:38,798,889 | C/A | — | uncertain significance |
| rs5743614 | 4:38,798,935 | C/T | — | benign |
| rs143576719 | 4:38,798,971 | T/C | — | benign |
| rs375952631 | 4:38,798,979 | G/A | — | uncertain significance |
| rs370784389 | 4:38,798,981 | C/T | — | uncertain significance |
| rs374992283 | 4:38,799,032 | T/C | — | uncertain significance |
| rs141556246 | 4:38,799,047 | G/A | — | uncertain significance |
| rs137853171 | 4:38,799,075 | T/C | — | not provided |
| rs577992581 | 4:38,799,091 | G/T | — | uncertain significance |
| rs1265400254 | 4:38,799,114 | T/G | — | uncertain significance |
| rs1726195216 | 4:38,799,120 | G/A | — | uncertain significance |
| rs199899599 | 4:38,799,126 | A/T | — | likely benign |
| rs773682011 | 4:38,799,129 | A/G | — | pathogenic |
| rs770320905 | 4:38,799,269 | G/C | — | uncertain significance |
| rs757913587 | 4:38,799,314 | T/C | — | uncertain significance |
| rs76796448 | 4:38,799,399 | G/T | — | benign |
| rs758394460 | 4:38,799,421 | T/C | — | likely benign |
| rs140421533 | 4:38,799,505 | T/C | — | likely benign |
| rs5743613 | 4:38,799,509 | G/A | missense variant | — |
| rs150985008 | 4:38,799,516 | C/T | — | likely benign |
| rs775453006 | 4:38,799,538 | G/T | — | uncertain significance |
| rs3923647 | 4:38,799,539 | T/A | — | benign |
| rs1021745361 | 4:38,799,548 | A/G | — | uncertain significance |
| rs2529527012 | 4:38,799,623 | G/A | — | uncertain significance |
| rs138773657 | 4:38,799,634 | T/C | — | likely benign |
| rs1169602607 | 4:38,799,635 | A/G | — | uncertain significance |
| rs200269582 | 4:38,799,638 | G/C | — | likely benign |
| rs917471666 | 4:38,799,651 | C/A | — | uncertain significance |
| rs4833095 | 4:38,799,710 | T/C | missense variant | risk factor |
| rs2529529115 | 4:38,799,786 | A/G | — | uncertain significance |
| rs137873769 | 4:38,799,833 | T/G | — | uncertain significance |
| rs775736270 | 4:38,799,847 | G/A | — | likely benign |
| rs373908427 | 4:38,799,849 | A/G | — | uncertain significance |
| rs1362209417 | 4:38,799,879 | G/C | — | uncertain significance |
| rs973046025 | 4:38,799,910 | A/G | — | likely benign |
| rs746996557 | 4:38,799,927 | C/G | — | uncertain significance |
| rs141970382 | 4:38,800,059 | A/C | — | uncertain significance |
| rs190177710 | 4:38,800,083 | T/C | — | uncertain significance |
| rs374676728 | 4:38,800,088 | G/A | — | uncertain significance |
| rs200474947 | 4:38,800,131 | T/A | — | uncertain significance |
| rs780841704 | 4:38,800,132 | C/T | — | likely benign |
| rs5743611 | 4:38,800,214 | C/G | missense variant | benign |
| rs137853170 | 4:38,800,229 | A/G | — | not provided |
| rs772275682 | 4:38,800,240 | C/T | — | likely benign |
| rs149960231 | 4:38,800,259 | A/C | — | uncertain significance |
| rs145135062 | 4:38,800,282 | T/C | — | likely benign |
| rs181364215 | 4:38,800,308 | T/C | — | likely benign |
| rs2529537501 | 4:38,800,317 | T/C | — | uncertain significance |
| rs76600635 | 4:38,800,323 | A/G | — | benign |
| rs5743610 | 4:38,800,339 | G/A | — | benign |
| rs140255888 | 4:38,800,362 | T/C | — | likely benign |
| rs763240496 | 4:38,800,364 | T/C | — | uncertain significance |
| rs5743592 | 4:38,803,063 | A/T | — | — |
| rs5743565 | 4:38,805,983 | T/C | regulatory region variant | — |
| rs5743557 | 4:38,806,827 | G/A | regulatory region variant | — |
| rs5743551 | 4:38,807,654 | T/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.