IRF3
interferon regulatory factor 3
Summary
This gene encodes a member of the interferon regulatory transcription factor (IRF) family. The encoded protein is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription of interferons alpha and beta, as well as other interferon-induced genes. The protein plays an important role in the innate immune response against DNA and RNA viruses. Mutations in this gene are associated with Encephalopathy, acute, infection-induced, herpes-specific, 7. [provided by RefSeq, Sep 2020]
Known Variants59 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs779357935 | 19:50,162,869 | C/T | — | uncertain significance |
| rs370098271 | 19:50,162,875 | G/C | — | uncertain significance |
| rs7251 | 19:50,162,909 | C/G | missense variant | benign |
| rs748641459 | 19:50,162,913 | C/T | — | uncertain significance |
| rs149842990 | 19:50,162,974 | G/A | — | likely benign |
| rs11554833 | 19:50,162,980 | G/A | — | benign |
| rs141496153 | 19:50,162,988 | G/C | — | uncertain significance |
| rs749194762 | 19:50,163,008 | T/C | — | likely benign |
| rs774095875 | 19:50,163,044 | C/T | — | likely benign |
| rs200392275 | 19:50,163,052 | G/C | — | conflicting classifications of pathogenicity |
| rs148672096 | 19:50,163,981 | C/A | — | uncertain significance |
| rs200830423 | 19:50,163,998 | G/A | — | risk factor |
| rs2513776130 | 19:50,164,002 | G/A | — | uncertain significance |
| rs770031770 | 19:50,164,005 | C/T | — | uncertain significance |
| rs774859762 | 19:50,164,052 | G/A | — | likely benign |
| rs1226124645 | 19:50,164,064 | C/T | — | uncertain significance |
| rs1466759704 | 19:50,165,216 | G/A | — | uncertain significance |
| rs2513791584 | 19:50,165,222 | A/G | — | uncertain significance |
| rs754148669 | 19:50,165,224 | G/C | — | uncertain significance |
| rs2513791903 | 19:50,165,242 | C/G | — | uncertain significance |
| rs181910006 | 19:50,165,272 | A/C | — | uncertain significance |
| rs762507542 | 19:50,165,302 | C/T | — | likely benign |
| rs750526659 | 19:50,165,333 | C/T | — | risk factor |
| rs1038455953 | 19:50,165,353 | C/T | — | likely benign |
| rs143769046 | 19:50,165,358 | C/T | — | conflicting classifications of pathogenicity |
| rs138165581 | 19:50,165,360 | C/T | — | likely benign |
| rs990449697 | 19:50,165,406 | C/T | — | uncertain significance |
| rs375866058 | 19:50,165,479 | C/G | — | uncertain significance |
| rs369780780 | 19:50,165,493 | C/T | — | uncertain significance |
| rs145949138 | 19:50,165,494 | G/A | — | likely benign |
| rs778251209 | 19:50,165,518 | C/T | — | likely benign |
| rs749588629 | 19:50,165,519 | G/A | — | uncertain significance |
| rs139855390 | 19:50,165,528 | A/G | — | uncertain significance |
| rs768444988 | 19:50,165,550 | G/A | — | uncertain significance |
| rs368547797 | 19:50,165,690 | G/A | — | uncertain significance |
| rs947514397 | 19:50,165,718 | C/T | — | uncertain significance |
| rs2513800735 | 19:50,165,741 | G/A | — | uncertain significance |
| rs186551702 | 19:50,165,760 | T/C | — | benign |
| rs763424189 | 19:50,165,796 | C/A | — | uncertain significance |
| rs2513802330 | 19:50,165,826 | G/C | — | uncertain significance |
| rs1392253605 | 19:50,165,832 | G/A | — | uncertain significance |
| rs199550479 | 19:50,165,845 | G/C | — | uncertain significance |
| rs74980832 | 19:50,165,851 | C/G | — | likely benign |
| rs368164543 | 19:50,166,458 | G/C | — | uncertain significance |
| rs137902370 | 19:50,166,473 | T/C | — | likely benign |
| rs745647482 | 19:50,166,508 | C/G | — | uncertain significance |
| rs778036856 | 19:50,166,621 | T/C | — | likely benign |
| rs771402454 | 19:50,166,633 | C/T | — | uncertain significance |
| rs1256594274 | 19:50,166,646 | G/C | — | uncertain significance |
| rs968457 | 19:50,166,650 | C/T | — | benign |
| rs772522569 | 19:50,166,651 | G/A | — | uncertain significance |
| rs3810260 | 19:50,166,795 | T/C | — | benign |
| rs2304207 | 19:50,167,726 | C/T | — | — |
| rs765413754 | 19:50,167,963 | C/T | — | uncertain significance |
| rs2081577668 | 19:50,168,012 | G/C | — | uncertain significance |
| rs148729350 | 19:50,168,841 | C/T | regulatory region variant | — |
| rs2304206 | 19:50,168,871 | G/T | — | — |
| rs2304204 | 19:50,169,020 | T/C | regulatory region variant | — |
| rs1057519880 | 19:50,169,132 | C/T | missense variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.