IFNAR1

interferon alpha and beta receptor subunit 1

Summary

The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The protein belongs to the type II cytokine receptor family and functions as an antiviral factor. [provided by RefSeq, Jul 2020]

Known Variants246 total

rsidPosition (GRCh37)AllelesClassClinVar
rs6265464521:34,695,981G/C——
rs284371021:34,696,707C/Gregulatory region variant—
rs285001521:34,697,264T/G——
rs208311223221:34,697,370G/A—uncertain significance
rs96607012721:34,697,374T/G—uncertain significance
rs132774461421:34,697,375C/A—likely benign
rs77009581321:34,697,376C/T—likely benign
rs126179229221:34,697,377T/C—uncertain significance
rs148709136221:34,697,378G/A—likely benign
rs94069965221:34,697,381C/T—likely benign
rs251684238521:34,697,384G/A—likely benign
rs75167512421:34,697,388A/G—conflicting classifications of pathogenicity
rs75946773721:34,697,391C/G—uncertain significance
rs75292228621:34,697,396G/A—likely benign
rs86678707721:34,697,406G/A—uncertain significance
rs14394759221:34,697,410C/T—uncertain significance
rs122785435821:34,697,415T/G—uncertain significance
rs102627997621:34,697,424T/G—uncertain significance
rs14580087721:34,697,429A/G—likely benign
rs122431422521:34,697,432C/T—likely benign
rs53306328721:34,697,443G/A—likely benign
rs142191915921:34,697,445C/A—likely benign
rs251684262021:34,697,446G/A—likely benign
rs285696821:34,697,981A/Gregulatory region variant—
rs1262675021:34,698,385C/T——
rs57011559821:34,698,658C/T——
rs101294321:34,700,505G/T——
rs224359221:34,707,808T/G—benign
rs208322506821:34,707,821C/T—likely benign
rs56675920821:34,707,837A/G—likely benign
rs212366847321:34,707,839A/G—uncertain significance
rs77497502021:34,707,846A/C—uncertain significance
rs36771864021:34,707,853C/T—pathogenic
rs208322570821:34,707,855A/G—likely benign
rs77694857621:34,707,867C/T—likely benign
rs14898938121:34,707,868G/A—conflicting classifications of pathogenicity
rs14377356421:34,707,881A/G—uncertain significance
rs53875598421:34,707,883A/C—uncertain significance
rs13929398221:34,707,884A/G—uncertain significance
rs76592992421:34,707,885C/T—likely benign
rs208322620921:34,707,894G/C—likely benign
rs37729870521:34,707,910G/A—uncertain significance
rs77914607121:34,707,921C/T—likely benign
rs20153216021:34,707,922G/A—uncertain significance
rs251685921721:34,707,934T/G—uncertain significance
rs6173533421:34,707,942C/T—benign
rs14243898821:34,707,943G/T—uncertain significance
rs77695729021:34,707,946T/C—uncertain significance
rs76969533521:34,707,958G/T—uncertain significance
rs208322689321:34,707,964C/G—likely benign
rs224359421:34,708,061A/Gdownstream gene variantbenign
rs208328677021:34,713,286T/C—likely benign
rs86753735021:34,713,293T/A—likely benign
rs251686748521:34,713,309G/C—uncertain significance
rs78072477021:34,713,310G/A—uncertain significance
rs76889691121:34,713,315G/T—uncertain significance
rs998175321:34,713,317T/C—benign
rs208328723221:34,713,322G/C—uncertain significance
rs18193958121:34,713,323G/C—uncertain significance
rs55634351421:34,713,326A/C—likely benign
rs75946822921:34,713,339T/C—uncertain significance
rs123622508521:34,713,376C/T—uncertain significance
rs208328821821:34,713,382A/G—uncertain significance
rs19997567721:34,713,388A/G—uncertain significance
rs160185861221:34,713,389T/C—likely benign
rs78168145521:34,713,390G/T—uncertain significance
rs251686772521:34,713,395T/A—pathogenic
rs75617098521:34,713,403T/C—uncertain significance
rs13908017021:34,713,412G/A—uncertain significance
rs36904362021:34,713,414A/G—conflicting classifications of pathogenicity
rs212368111321:34,713,421C/T—uncertain significance
rs212368112221:34,713,422A/T—likely benign
rs208328898821:34,713,437T/G—likely benign
rs251686781321:34,713,439C/A—uncertain significance
rs251686782821:34,713,445G/C—likely risk allele
rs119208058421:34,713,458C/T—likely benign
rs208328968821:34,713,462T/C—uncertain significance
rs14289097521:34,713,474C/T—uncertain significance
rs77646009921:34,713,475G/A—uncertain significance
rs37386952121:34,713,495C/G—likely benign
rs101233521:34,714,007G/T——
rs19327838221:34,715,561G/C—likely benign
rs208331083521:34,715,562A/T—likely benign
rs20216132121:34,715,563T/C—benign
rs96588540421:34,715,572A/G—likely pathogenic
rs251687134521:34,715,577A/C—uncertain significance
rs136577582421:34,715,589C/T—uncertain significance
rs75986806621:34,715,594G/T—uncertain significance
rs95318920321:34,715,641T/C—likely benign
rs212368546121:34,715,657G/T—uncertain significance
rs251687155221:34,715,661T/G—uncertain significance
rs75729003821:34,715,667C/T—uncertain significance
rs140564654221:34,715,669T/C—likely benign
rs77912668521:34,715,670T/C—uncertain significance
rs75816545321:34,715,675G/A—uncertain significance
rs76082600021:34,715,695C/T—likely benign
rs225716721:34,715,699G/Cmissense variantbenign
rs20083110721:34,715,701T/C—benign
rs18424858821:34,715,713C/G—likely benign
rs144500554721:34,715,715C/T—uncertain significance

Showing 100 of 246 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.