TNFRSF1A
TNF receptor superfamily member 1A
Summary
This gene encodes a member of the TNF receptor superfamily of proteins. The encoded receptor is found in membrane-bound and soluble forms that interact with membrane-bound and soluble forms, respectively, of its ligand, tumor necrosis factor alpha. Binding of membrane-bound tumor necrosis factor alpha to the membrane-bound receptor induces receptor trimerization and activation, which plays a role in cell survival, apoptosis, and inflammation. Proteolytic processing of the encoded receptor results in release of the soluble form of the receptor, which can interact with free tumor necrosis factor alpha to inhibit inflammation. Mutations in this gene underlie tumor necrosis factor receptor-associated periodic syndrome (TRAPS), characterized by fever, abdominal pain and other features. Mutations in this gene may also be associated with multiple sclerosis in human patients. [provided by RefSeq, Sep 2016]
Known Variants452 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs150426904 | 12:6,438,084 | T/A | — | uncertain significance |
| rs115682467 | 12:6,438,091 | T/C | — | likely benign |
| rs200167144 | 12:6,438,104 | A/C | — | uncertain significance |
| rs4149646 | 12:6,438,145 | C/T | — | benign |
| rs202094667 | 12:6,438,181 | C/T | — | uncertain significance |
| rs201376255 | 12:6,438,215 | G/A | — | uncertain significance |
| rs45563431 | 12:6,438,226 | T/C | — | conflicting classifications of pathogenicity |
| rs3202413 | 12:6,438,283 | C/T | — | uncertain significance |
| rs186356476 | 12:6,438,300 | G/A | — | uncertain significance |
| rs543718521 | 12:6,438,330 | G/A | — | uncertain significance |
| rs200188649 | 12:6,438,414 | A/G | — | conflicting classifications of pathogenicity |
| rs200297634 | 12:6,438,440 | G/A | — | uncertain significance |
| rs759423059 | 12:6,438,456 | A/G | — | benign |
| rs201800238 | 12:6,438,479 | C/T | — | likely benign |
| rs1236501292 | 12:6,438,483 | T/G | — | likely benign |
| rs763628505 | 12:6,438,487 | A/C | — | likely benign |
| rs886049750 | 12:6,438,490 | A/T | — | uncertain significance |
| rs200346150 | 12:6,438,492 | T/A | — | uncertain significance |
| rs2136811861 | 12:6,438,495 | G/A | — | uncertain significance |
| rs1426121771 | 12:6,438,497 | G/C | — | uncertain significance |
| rs201538598 | 12:6,438,502 | C/A | — | likely benign |
| rs1289887403 | 12:6,438,503 | G/C | — | uncertain significance |
| rs2136811931 | 12:6,438,505 | G/A | — | likely benign |
| rs756455040 | 12:6,438,517 | G/T | — | likely benign |
| rs201062001 | 12:6,438,518 | C/A | — | conflicting classifications of pathogenicity |
| rs749489763 | 12:6,438,519 | C/A | — | uncertain significance |
| rs770656568 | 12:6,438,521 | C/T | — | uncertain significance |
| rs2136812027 | 12:6,438,522 | A/T | — | uncertain significance |
| rs1565465505 | 12:6,438,523 | A/G | — | likely benign |
| rs2136812048 | 12:6,438,524 | A/T | — | uncertain significance |
| rs980022194 | 12:6,438,526 | C/T | — | likely benign |
| rs1947997276 | 12:6,438,528 | C/T | — | uncertain significance |
| rs745814061 | 12:6,438,534 | C/G | — | uncertain significance |
| rs1243645113 | 12:6,438,539 | T/C | — | uncertain significance |
| rs914051712 | 12:6,438,550 | G/C | — | likely benign |
| rs1947998142 | 12:6,438,554 | A/G | — | uncertain significance |
| rs1592043048 | 12:6,438,559 | G/A | — | likely benign |
| rs2497784474 | 12:6,438,561 | C/A | — | uncertain significance |
| rs982742726 | 12:6,438,575 | A/G | — | uncertain significance |
| rs199636425 | 12:6,438,589 | C/T | — | likely benign |
| rs1454639907 | 12:6,438,590 | T/C | — | uncertain significance |
| rs2497784612 | 12:6,438,592 | C/T | — | likely benign |
| rs200473080 | 12:6,438,595 | C/A | — | likely benign |
| rs1350150713 | 12:6,438,599 | G/A | — | uncertain significance |
| rs1947999694 | 12:6,438,600 | C/T | — | uncertain significance |
| rs1310241012 | 12:6,438,608 | C/T | — | uncertain significance |
| rs752865275 | 12:6,438,611 | G/A | — | uncertain significance |
| rs876661181 | 12:6,438,612 | G/C | — | uncertain significance |
| rs1176222642 | 12:6,438,613 | C/T | — | likely benign |
| rs756182075 | 12:6,438,618 | G/A | — | uncertain significance |
| rs561674960 | 12:6,438,620 | C/A | — | uncertain significance |
| rs1163833048 | 12:6,438,621 | G/A | — | uncertain significance |
| rs1948000990 | 12:6,438,624 | T/C | — | uncertain significance |
| rs1592043182 | 12:6,438,629 | G/A | — | uncertain significance |
| rs148334665 | 12:6,438,640 | G/A | — | conflicting classifications of pathogenicity |
| rs140486890 | 12:6,438,649 | C/A | — | likely benign |
| rs1948002075 | 12:6,438,655 | G/C | — | likely benign |
| rs1565465664 | 12:6,438,657 | G/A | — | uncertain significance |
| rs1325524870 | 12:6,438,666 | G/T | — | uncertain significance |
| rs898201669 | 12:6,438,669 | C/A | — | uncertain significance |
| rs761439462 | 12:6,438,676 | C/A | — | likely benign |
| rs2497785242 | 12:6,438,681 | C/T | — | uncertain significance |
| rs778863675 | 12:6,438,686 | C/T | — | uncertain significance |
| rs1199072290 | 12:6,438,687 | G/A | — | uncertain significance |
| rs369290223 | 12:6,438,706 | C/T | — | likely benign |
| rs867442872 | 12:6,438,720 | G/T | — | likely benign |
| rs1592043327 | 12:6,438,731 | T/G | — | uncertain significance |
| rs201683984 | 12:6,438,736 | G/A | — | conflicting classifications of pathogenicity |
| rs765407751 | 12:6,438,738 | G/A | — | uncertain significance |
| rs1490064601 | 12:6,438,743 | G/T | — | uncertain significance |
| rs1490936362 | 12:6,438,747 | G/A | — | uncertain significance |
| rs2497785634 | 12:6,438,749 | A/T | — | uncertain significance |
| rs1191537375 | 12:6,438,755 | T/C | — | uncertain significance |
| rs2497785685 | 12:6,438,759 | C/G | — | uncertain significance |
| rs746923911 | 12:6,438,763 | G/A | — | conflicting classifications of pathogenicity |
| rs2497785712 | 12:6,438,765 | C/T | — | uncertain significance |
| rs104895291 | 12:6,438,766 | G/C | — | not provided |
| rs151344628 | 12:6,438,771 | G/A | — | likely benign |
| rs200827709 | 12:6,438,774 | T/C | — | uncertain significance |
| rs369451569 | 12:6,438,792 | C/G | — | conflicting classifications of pathogenicity |
| rs1948006524 | 12:6,438,793 | G/A | — | likely benign |
| rs761155688 | 12:6,438,794 | G/C | — | conflicting classifications of pathogenicity |
| rs2497785841 | 12:6,438,795 | G/A | — | likely benign |
| rs764636915 | 12:6,438,796 | G/C | — | conflicting classifications of pathogenicity |
| rs899753301 | 12:6,438,797 | A/C | — | likely benign |
| rs776610155 | 12:6,438,800 | C/T | — | likely benign |
| rs1358132747 | 12:6,438,801 | G/A | — | likely benign |
| rs761980884 | 12:6,438,803 | G/A | — | likely benign |
| rs765248274 | 12:6,438,804 | C/T | — | benign |
| rs1321895968 | 12:6,438,805 | C/T | — | likely benign |
| rs533012174 | 12:6,438,819 | C/T | — | benign |
| rs1948008479 | 12:6,438,846 | C/A | — | benign |
| rs1948011690 | 12:6,438,926 | G/A | — | likely benign |
| rs1478588008 | 12:6,438,928 | C/T | — | likely benign |
| rs1405247446 | 12:6,438,930 | C/T | — | likely benign |
| rs1948012552 | 12:6,438,952 | C/T | — | uncertain significance |
| rs201994938 | 12:6,438,963 | G/C | — | uncertain significance |
| rs1399104304 | 12:6,438,964 | T/C | — | conflicting classifications of pathogenicity |
| rs1323382829 | 12:6,438,966 | G/A | — | likely benign |
| rs1204889937 | 12:6,438,968 | C/T | — | uncertain significance |
Showing 100 of 452 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.