IFNAR1 Chromosome 21
Interferon alpha and beta receptor subunit 1
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What This Gene Does
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]
Gene Info
Gene Group
Interferon receptors
Locus Type
gene with protein product
Location
21q22.11
Ensembl
ENSG00000142166
Associated Conditions (4)
IFNAR1-related disorder
Immunodeficiency 106
susceptibility to viral infections
Susceptibility to severe COVID-19
Key Variants
RS1182039209
Conflicting classifications of pathogenicity
Health Risk
RS141582204
Conflicting classifications of pathogenicity
Health Risk
RS148989381
Conflicting classifications of pathogenicity
IFNAR1-related disorder, IFNAR1-related disorder
Health Risk
RS199515722
Conflicting classifications of pathogenicity
Health Risk
RS200796146
Conflicting classifications of pathogenicity
Health Risk
RS369043620
Conflicting classifications of pathogenicity
Health Risk
RS541858922
Conflicting classifications of pathogenicity
Health Risk
RS751675124
Conflicting classifications of pathogenicity
Health Risk
RS1048452849
Likely pathogenic
Health Risk
RS1180199400
Likely pathogenic
Health Risk
RS1198829221
Likely pathogenic
Health Risk
RS2516880373
Likely pathogenic
Health Risk
All Variants (36)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1182039209 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141582204 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148989381 | Health Risk | Conflicting classifications of pathogenicity | IFNAR1-related disorder, IFNAR1-related disorder |
| RS199515722 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200796146 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369043620 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS541858922 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751675124 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1048452849 | Health Risk | Likely pathogenic | — |
| RS1180199400 | Health Risk | Likely pathogenic | — |
| RS1198829221 | Health Risk | Likely pathogenic | — |
| RS2516880373 | Health Risk | Likely pathogenic | — |
| RS2516881002 | Health Risk | Likely pathogenic | — |
| RS2516887030 | Health Risk | Likely pathogenic | Immunodeficiency 106, susceptibility to viral infections, Immunodeficiency 106 |
| RS756137377 | Health Risk | Likely pathogenic | — |
| RS965885404 | Health Risk | Likely pathogenic | Immunodeficiency 106, susceptibility to viral infections, Immunodeficiency 106 |
| RS139293982 | Health Risk | Likely risk allele | Susceptibility to severe COVID-19, Susceptibility to severe COVID-19 |
| RS2516867828 | Health Risk | Likely risk allele | Susceptibility to severe COVID-19, Susceptibility to severe COVID-19 |
| RS1191883044 | Health Risk | Pathogenic | — |
| RS1409062242 | Health Risk | Pathogenic | — |
| RS201609461 | Health Risk | Pathogenic | Immunodeficiency 106, susceptibility to viral infections, Immunodeficiency 106 |
| RS2083381117 | Health Risk | Pathogenic | — |
| RS2123681235 | Health Risk | Pathogenic | — |
| RS2516867559 | Health Risk | Pathogenic | — |
| RS2516867646 | Health Risk | Pathogenic | — |
| RS2516867725 | Health Risk | Pathogenic | — |
| RS2516885537 | Health Risk | Pathogenic | — |
| RS367718640 | Health Risk | Pathogenic | — |
| RS752375500 | Health Risk | Pathogenic | — |
| RS755139751 | Health Risk | Pathogenic | — |
| RS770853192 | Health Risk | Pathogenic | — |
| RS34849215 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency 106, susceptibility to viral infections, Immunodeficiency 106 |
| RS1601861196 | Health Risk | risk factor | Immunodeficiency 106, susceptibility to viral infections, Immunodeficiency 106 |
| RS1601861199 | Health Risk | risk factor | Immunodeficiency 106, susceptibility to viral infections, Immunodeficiency 106 |
| RS2123261739 | Health Risk | risk factor | Immunodeficiency 106, susceptibility to viral infections, Immunodeficiency 106 |
| RS756541321 | Health Risk | risk factor | Immunodeficiency 106, susceptibility to viral infections, Immunodeficiency 106 |