IFIH1

interferon induced with helicase C domain 1

Summary

IFIH1 encodes MDA5 which is an intracellular sensor of viral RNA that triggers the innate immune response. Sensing RNA length and secondary structure, MDA5 binds dsRNA oligonucleotides with a modified DExD/H-box helicase core and a C-terminal domain, thus leading to a proinflammatory response that includes interferons. It has been shown that Coronaviruses (CoVs) as well as various other virus families, are capable of evading the MDA5-dependent interferon response, thus impeding the activation of the innate immune response to infection. MDA5 has also been shown to play an important role in enhancing natural killer cell function in malaria infection. In addition to its protective role in antiviral responses, MDA5 has been implicated in autoimmune and autoinflammatory diseases such as type 1 diabetes, systemic lupus erythematosus, and Aicardi-Goutieres syndrome[provided by RefSeq, Jul 2020]

Known Variants1,144 total

rsidPosition (GRCh37)AllelesClassClinVar
rs118911912:163,123,704C/T—benign
rs5325336462:163,123,719A/G—likely benign
rs21051864762:163,123,720T/G—uncertain significance
rs15598086172:163,123,721C/A—uncertain significance
rs7557795702:163,123,728T/C—likely benign
rs16909415872:163,123,738T/C—uncertain significance
rs5477829322:163,123,744T/C—uncertain significance
rs353699892:163,123,746G/C—uncertain significance
rs5286397342:163,123,752A/T—likely benign
rs9315670642:163,123,753T/C—uncertain significance
rs13048212682:163,123,762G/C—uncertain significance
rs16909421482:163,123,763T/C—uncertain significance
rs16909421942:163,123,768G/T—uncertain significance
rs12676553672:163,123,770T/C—likely benign
rs7767541562:163,123,782C/A—uncertain significance
rs11653899832:163,123,783T/G—uncertain significance
rs24689428392:163,123,784T/A—uncertain significance
rs24689428442:163,123,785T/G—uncertain significance
rs24689428462:163,123,787T/C—uncertain significance
rs1510373702:163,123,788G/A—likely benign
rs11631787952:163,123,790A/G—likely benign
rs7735798122:163,123,800T/C—likely benign
rs8993717692:163,123,809A/G—likely benign
rs21051866362:163,123,810T/G—uncertain significance
rs7633582772:163,123,815G/T—uncertain significance
rs7668798012:163,123,820C/T—uncertain significance
rs21051866552:163,123,824T/C—likely benign
rs741620902:163,123,826C/T—uncertain significance
rs7679685182:163,123,828A/G—uncertain significance
rs7555864352:163,123,834C/G—uncertain significance
rs7636806932:163,123,836T/C—uncertain significance
rs7535148742:163,123,838T/C—uncertain significance
rs16909436012:163,123,841T/C—uncertain significance
rs741620892:163,123,842G/A—likely benign
rs24689430552:163,123,846C/A—uncertain significance
rs3720070252:163,123,851C/T—likely benign
rs15536964822:163,123,852A/C—pathogenic
rs24689430922:163,123,856C/G—uncertain significance
rs24689431102:163,123,866G/C—uncertain significance
rs7481986552:163,123,868G/A—uncertain significance
rs3761167072:163,123,869C/G—conflicting classifications of pathogenicity
rs7735268362:163,123,871C/T—uncertain significance
rs21051867452:163,123,874T/G—uncertain significance
rs16909446372:163,123,885C/T—uncertain significance
rs7494886902:163,123,889C/T—uncertain significance
rs1145416102:163,123,893G/A—likely benign
rs16909448922:163,123,894A/G—likely benign
rs24689434062:163,123,897A/G—likely benign
rs13769852432:163,123,905G/C—likely benign
rs16909452252:163,123,907G/C—likely benign
rs7550042132:163,123,969G/C—likely benign
rs3691028392:163,123,970C/G—likely benign
rs1453814082:163,123,972C/T—benign
rs13211355732:163,123,974C/T—likely benign
rs3745274622:163,123,975A/G—likely benign
rs9584935072:163,123,984C/G—uncertain significance
rs24689435412:163,123,985T/C—uncertain significance
rs5590692272:163,123,986C/T—likely benign
rs7723468952:163,123,989C/G—uncertain significance
rs21051869172:163,123,991G/A—uncertain significance
rs21051869322:163,123,993C/A—uncertain significance
rs2020099442:163,123,994C/T—conflicting classifications of pathogenicity
rs13889457492:163,123,996C/T—uncertain significance
rs14522196902:163,123,999T/A—uncertain significance
rs15598087562:163,124,003A/G—uncertain significance
rs5706763072:163,124,007G/A—likely benign
rs14667526692:163,124,015C/T—uncertain significance
rs7613138012:163,124,020A/G—uncertain significance
rs15762197062:163,124,021T/C—pathogenic
rs1444552772:163,124,024G/C—conflicting classifications of pathogenicity
rs7500631772:163,124,025A/C—uncertain significance
rs1165085322:163,124,026T/C—likely benign
rs16909493022:163,124,028G/C—uncertain significance
rs1486236332:163,124,029T/C—uncertain significance
rs7514170932:163,124,030C/T—uncertain significance
rs7549528702:163,124,031G/A—likely benign
rs21051870362:163,124,037C/A—uncertain significance
rs770413722:163,124,040C/G—uncertain significance
rs9315613632:163,124,048G/A—likely benign
rs19907602:163,124,051C/Tmissense variantbenign
rs12180239832:163,124,055G/C—uncertain significance
rs13223890172:163,124,056T/A—uncertain significance
rs21051870792:163,124,060C/A—uncertain significance
rs21051870912:163,124,067A/C—uncertain significance
rs12442496922:163,124,068A/T—likely benign
rs21051870962:163,124,069T/A—uncertain significance
rs21051871082:163,124,075G/C—uncertain significance
rs7597156932:163,124,076T/C—likely benign
rs14902973532:163,124,077T/C—uncertain significance
rs16909509042:163,124,082A/G—uncertain significance
rs16909509462:163,124,083T/A—likely benign
rs16909509922:163,124,086G/A—uncertain significance
rs24689437702:163,124,091A/G—likely benign
rs12657581662:163,124,095G/A—likely benign
rs21051871402:163,124,097A/G—likely benign
rs37616522:163,124,154C/A—likely benign
rs177647702:163,124,310T/C—likely benign
rs3705084512:163,124,577A/G—likely benign
rs14236828022:163,124,583C/T—likely benign
rs24689443582:163,124,585T/G—likely benign

Showing 100 of 1,144 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.