Varaico: Literature-Extracted Genetic Variants

Gene:IL6ST
Variant:p.A517P
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IL6ST

NM_002184.4:p.A517P

Associated Papers

Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow.

Maassen WTK et al.

Nar Genomics and Bioinformatics, 2026

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

Ashihara K et al.

Jci Insight, 2025

The structure of the IL-11 signalling complex provides insight into receptor variants associated with craniosynostosis.

Sentosa DD et al.

The Febs Journal, 2025

Structural insights into IL-11-mediated signalling and human IL6ST variant-associated immunodeficiency.

Gardner S et al.

Nature Communications, 2024

Structural insights into the assembly of gp130 family cytokine signaling complexes.

Zhou Y et al.

Science Advances, 2023

Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.

Chen YH et al.

The Journal of Allergy and Clinical Immunology, 2021

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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."