Varaico: Literature-Extracted Genetic Variants

Gene:IL6ST
Variant:p.S187_F191del0
Back to variants list

IL6ST

NM_002184.4:p.S187_F191del0

Associated Papers

Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy.

Materna-Kiryluk A et al.

Human Molecular Genetics, 2021

Biochemical and functional analyses of gp130 mutants unveil JAK1 as a novel therapeutic target in human inflammatory hepatocellular adenoma.

Poussin K et al.

Oncoimmunology, 2013

24501689 (PubMed )
Supplement: onci-2-e27090-s01.pdf

Frequent in-frame somatic deletions activate gp130 in inflammatory hepatocellular tumours.

Rebouissou S et al.

Nature, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."