Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.I309M
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AIRE

NM_000383.4:p.I309M

Associated Papers

Genetic contribution to severe COVID-19 in adults under 60 years without major comorbidities in the German National Pandemic Cohort Network (NAPKON).

Abolhassani A et al.

Human Genomics, 2026

A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.

Al Qureshah F et al.

The Journal of Experimental Medicine, 2025

39680367 (PubMed )
Supplement: jem_20241413_tables3.xlsx › Sheet1

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.

Oftedal BE et al.

Immunity, 2015

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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."