Varaico: Literature-Extracted Genetic Variants

Gene:IL6ST
Variant:p.R768*
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IL6ST

NM_002184.4:p.R768*

Associated Papers

Fine mapping of heterozygous IL6ST nonsense variants underlying autosomal dominant hyper-IgE syndrome.

Ashihara K et al.

Jci Insight, 2025

The Human GP130 Cytokine Receptor and Its Expression-an Atlas and Functional Taxonomy of Genetic Variants.

Chen YH et al.

Journal of Clinical Immunology, 2023

New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome.

Arlabosse T et al.

Journal of Clinical Immunology, 2023

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