Varaico: Literature-Extracted Genetic Variants

Gene:IL6ST
Variant:p.R281Q
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IL6ST

NM_002184.4:p.R281Q

Associated Papers

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

Gardner S et al.

Nature Communications, 2024

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

Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.

Tooze RS et al.

Genes, 2023

36980886 (PubMed )
Supplement: genes-14-00615-s001.zip › Supplementary_Information.pdf

Exclusive inhibition of IL-6 trans-signaling by soluble gp130FlyRFc.

Berg AF et al.

Cytokine: X, 2021

A variant in IL6ST with a selective IL-11 signaling defect in human and mouse.

Schwerd T et al.

Bone Research, 2020

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.

Schwerd T et al.

The Journal of Experimental Medicine, 2017

A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations.

Bossini-Castillo L et al.

Human Molecular Genetics, 2012

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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."