STING1
stimulator of interferon response cGAMP interactor 1
Summary
This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses. The encoded protein has also been shown to play a role in apoptotic signaling by associating with type II major histocompatibility complex. Mutations in this gene are the cause of infantile-onset STING-associated vasculopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
Known Variants273 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1581447677 | 5:138,855,847 | C/T | — | likely benign |
| rs1368968919 | 5:138,855,857 | C/A | — | uncertain significance |
| rs778204471 | 5:138,855,858 | C/T | — | likely benign |
| rs370381358 | 5:138,855,859 | G/C | — | uncertain significance |
| rs117897081 | 5:138,855,862 | C/T | — | conflicting classifications of pathogenicity |
| rs144606267 | 5:138,855,863 | G/A | — | uncertain significance |
| rs1581447721 | 5:138,855,875 | G/T | — | uncertain significance |
| rs766506666 | 5:138,855,876 | C/T | — | likely benign |
| rs1215030543 | 5:138,855,882 | C/T | — | uncertain significance |
| rs749761756 | 5:138,855,902 | C/T | — | uncertain significance |
| rs769406642 | 5:138,855,903 | A/G | — | likely benign |
| rs2547060936 | 5:138,855,909 | T/C | — | likely benign |
| rs141830680 | 5:138,855,910 | T/C | — | conflicting classifications of pathogenicity |
| rs112829463 | 5:138,855,918 | C/T | — | likely benign |
| rs1173366262 | 5:138,855,921 | G/T | — | likely benign |
| rs1047355852 | 5:138,855,925 | G/A | — | uncertain significance |
| rs977753165 | 5:138,855,932 | G/A | — | uncertain significance |
| rs143322684 | 5:138,855,937 | G/A | — | uncertain significance |
| rs1751659620 | 5:138,855,958 | A/G | — | uncertain significance |
| rs2547060999 | 5:138,855,959 | C/T | — | uncertain significance |
| rs1423748602 | 5:138,855,961 | G/T | — | uncertain significance |
| rs1751660369 | 5:138,855,965 | C/G | — | uncertain significance |
| rs1751660621 | 5:138,855,971 | C/T | — | uncertain significance |
| rs1268179693 | 5:138,855,980 | C/T | — | uncertain significance |
| rs1254726825 | 5:138,855,983 | G/T | — | uncertain significance |
| rs758939417 | 5:138,855,985 | C/T | — | uncertain significance |
| rs1197819878 | 5:138,855,986 | G/A | — | uncertain significance |
| rs377617158 | 5:138,855,990 | G/A | — | likely benign |
| rs1751662038 | 5:138,855,993 | C/T | — | likely benign |
| rs370524913 | 5:138,855,994 | C/T | — | conflicting classifications of pathogenicity |
| rs777366618 | 5:138,855,995 | G/A | — | uncertain significance |
| rs957732368 | 5:138,856,006 | T/G | — | uncertain significance |
| rs201015563 | 5:138,856,007 | G/T | — | uncertain significance |
| rs1393425615 | 5:138,856,011 | C/T | — | likely benign |
| rs745720828 | 5:138,856,014 | C/T | — | likely benign |
| rs772018436 | 5:138,856,015 | G/A | — | likely benign |
| rs1751663376 | 5:138,856,020 | G/A | — | likely benign |
| rs1561482019 | 5:138,856,034 | C/A | — | uncertain significance |
| rs2547061098 | 5:138,856,042 | G/A | — | uncertain significance |
| rs1225982915 | 5:138,856,048 | G/A | — | likely benign |
| rs374086484 | 5:138,856,057 | G/C | — | benign |
| rs1450154806 | 5:138,856,058 | G/A | — | likely benign |
| rs529144129 | 5:138,856,059 | G/C | — | likely benign |
| rs185552744 | 5:138,856,125 | C/T | — | benign |
| rs73257329 | 5:138,856,580 | C/T | — | — |
| rs772016984 | 5:138,856,895 | C/A | — | likely benign |
| rs371277040 | 5:138,856,902 | C/T | — | likely benign |
| rs768799195 | 5:138,856,908 | C/A | — | conflicting classifications of pathogenicity |
| rs776838039 | 5:138,856,909 | C/T | — | uncertain significance |
| rs375560052 | 5:138,856,913 | C/A | — | uncertain significance |
| rs140837017 | 5:138,856,923 | C/T | — | likely benign |
| rs1751692480 | 5:138,856,928 | A/G | — | uncertain significance |
| rs2547061947 | 5:138,856,929 | G/A | — | uncertain significance |
| rs144683867 | 5:138,856,931 | C/T | — | conflicting classifications of pathogenicity |
| rs763335050 | 5:138,856,932 | G/A | — | uncertain significance |
| rs752003355 | 5:138,856,952 | G/T | — | uncertain significance |
| rs2152093345 | 5:138,856,954 | G/A | — | likely benign |
| rs768075396 | 5:138,856,975 | A/T | — | likely benign |
| rs1302904360 | 5:138,856,981 | C/T | — | likely benign |
| rs7380824 | 5:138,856,982 | C/T | — | likely benign |
| rs756770138 | 5:138,856,983 | G/A | — | conflicting classifications of pathogenicity |
| rs2547062051 | 5:138,856,997 | G/A | — | uncertain significance |
| rs2547062052 | 5:138,856,998 | C/T | — | uncertain significance |
| rs778582118 | 5:138,857,004 | C/T | — | uncertain significance |
| rs2547062066 | 5:138,857,009 | C/G | — | pathogenic |
| rs2547062073 | 5:138,857,013 | C/T | — | uncertain significance |
| rs1751695966 | 5:138,857,014 | C/T | — | likely benign |
| rs1483629542 | 5:138,857,015 | T/C | — | uncertain significance |
| rs1199879569 | 5:138,857,016 | C/T | — | uncertain significance |
| rs1561482476 | 5:138,857,018 | C/T | — | pathogenic |
| rs750077345 | 5:138,857,019 | G/A | — | conflicting classifications of pathogenicity |
| rs982110109 | 5:138,857,029 | A/G | — | likely benign |
| rs1751696876 | 5:138,857,034 | G/C | — | uncertain significance |
| rs780009028 | 5:138,857,044 | T/C | — | likely benign |
| rs1379763592 | 5:138,857,052 | C/T | — | uncertain significance |
| rs2152093364 | 5:138,857,056 | C/G | — | uncertain significance |
| rs141928874 | 5:138,857,070 | G/A | — | uncertain significance |
| rs2152093371 | 5:138,857,075 | G/C | — | uncertain significance |
| rs140038439 | 5:138,857,076 | C/T | — | uncertain significance |
| rs537146631 | 5:138,857,077 | G/A | — | likely benign |
| rs1319717262 | 5:138,857,083 | C/T | — | likely benign |
| rs769794754 | 5:138,857,093 | G/A | — | uncertain significance |
| rs773415324 | 5:138,857,094 | T/A | — | uncertain significance |
| rs368419459 | 5:138,857,097 | C/T | — | conflicting classifications of pathogenicity |
| rs11554777 | 5:138,857,098 | C/T | — | likely benign |
| rs774690247 | 5:138,857,099 | G/A | — | uncertain significance |
| rs759930084 | 5:138,857,103 | A/G | — | conflicting classifications of pathogenicity |
| rs549790890 | 5:138,857,104 | G/C | — | likely benign |
| rs200232916 | 5:138,857,109 | G/T | — | likely benign |
| rs1357142936 | 5:138,857,113 | A/G | — | likely benign |
| rs2152093389 | 5:138,857,116 | G/A | — | likely benign |
| rs75746446 | 5:138,857,340 | T/C | — | benign |
| rs771105919 | 5:138,857,836 | C/T | — | likely benign |
| rs1011753740 | 5:138,857,840 | C/A | — | likely benign |
| rs1189084716 | 5:138,857,841 | C/T | — | likely benign |
| rs894230225 | 5:138,857,852 | T/C | — | uncertain significance |
| rs148833313 | 5:138,857,856 | C/T | — | conflicting classifications of pathogenicity |
| rs199795457 | 5:138,857,857 | G/A | — | uncertain significance |
| rs2547062741 | 5:138,857,859 | T/C | — | uncertain significance |
| rs1409697347 | 5:138,857,863 | C/T | — | uncertain significance |
Showing 100 of 273 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.