IRF1
interferon regulatory factor 1
Summary
The protein encoded by this gene is a transcriptional regulator and tumor suppressor, serving as an activator of genes involved in both innate and acquired immune responses. The encoded protein activates the transcription of genes involved in the body's response to viruses and bacteria, playing a role in cell proliferation, apoptosis, the immune response, and DNA damage response. This protein represses the transcription of several other genes. As a tumor suppressor, it both suppresses tumor cell growth and stimulates an immune response against tumor cells. Defects in this gene have been associated with gastric cancer, myelogenous leukemia, and lung cancer. [provided by RefSeq, Aug 2017]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs56288038 | 5:131,819,606 | G/C | 3 prime UTR variant | — |
| rs750101253 | 5:131,819,744 | G/A | — | uncertain significance |
| rs2070731 | 5:131,819,798 | T/C | — | benign |
| rs2070730 | 5:131,819,800 | G/A | — | benign |
| rs2070729 | 5:131,819,921 | C/A | intron variant | benign |
| rs7701588 | 5:131,819,970 | T/C | — | benign |
| rs2070728 | 5:131,819,977 | C/T | — | benign |
| rs2070727 | 5:131,820,275 | C/A | — | benign |
| rs10068129 | 5:131,821,246 | G/A | — | benign |
| rs10053046 | 5:131,821,558 | A/C | — | — |
| rs10214312 | 5:131,821,866 | T/G | — | benign |
| rs9282762 | 5:131,822,055 | T/C | — | benign |
| rs2070724 | 5:131,822,072 | A/G | — | benign |
| rs9282763 | 5:131,822,133 | T/C | — | benign |
| rs9282761 | 5:131,822,224 | T/C | — | benign |
| rs150089120 | 5:131,822,269 | A/G | — | uncertain significance |
| rs773493072 | 5:131,822,359 | G/A | — | uncertain significance |
| rs201796901 | 5:131,822,388 | G/A | — | likely benign |
| rs2479457796 | 5:131,822,516 | G/A | — | pathogenic |
| rs906964619 | 5:131,822,653 | C/G | — | uncertain significance |
| rs17622685 | 5:131,822,665 | G/C | — | benign |
| rs1398806502 | 5:131,822,723 | T/C | — | uncertain significance |
| rs2070723 | 5:131,823,187 | A/G | regulatory region variant | — |
| rs13170412 | 5:131,823,519 | A/G | — | benign |
| rs2479462097 | 5:131,823,702 | G/A | — | pathogenic |
| rs10213701 | 5:131,824,064 | T/A | intron variant | — |
| rs121912470 | 5:131,825,140 | A/G | missense variant | pathogenic |
| rs121912469 | 5:131,825,149 | T/A | missense variant | pathogenic |
| rs960757 | 5:131,826,310 | G/A | regulatory region variant | — |
| rs10900809 | 5:131,826,322 | G/C | — | — |
| rs11242115 | 5:131,826,413 | G/C | regulatory region variant | — |
| rs2706384 | 5:131,826,880 | G/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.