Varaico: Literature-Extracted Genetic Variants

Gene:IFNAR2
Variant:p.S53P
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IFNAR2

NM_001289125.3:p.S53P

Associated Papers

Monogenic disorders of immunity: Common variants are not so rare.

Béziat V et al.

Cell Genomics, 2026

Severe Adverse Reaction to Measles Vaccine Due to Homozygous Mutation in the IFNAR2 Gene: A Case Report and Literature Review.

Adi G et al.

Journal of Clinical Immunology, 2024

Inborn errors of immunity: an expanding universe of disease and genetic architecture.

Akalu YT et al.

Nature Reviews. Genetics, 2024

Clinical implications of host genetic variation and susceptibility to severe or critical COVID-19.

van der Made CI et al.

Genome Medicine, 2022

Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic.

Duncan CJA et al.

The Journal of Experimental Medicine, 2022

Null IFNAR1 and IFNAR2 alleles are surprisingly common in the Pacific and Arctic.

Meyts I

The Journal of Experimental Medicine, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."