Varaico: Literature-Extracted Genetic Variants

Gene:OTULIN
Variant:p.C129S
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OTULIN

NM_138348.6:p.C129S

Associated Papers

Monogenic disorders of the TNF signalling pathway.

Lalaoui N et al.

Nature Reviews. Rheumatology, 2026

Update on new autoinflammatory disorders from the 2024 Pediatric Rheumatology European Society Congress.

Schulert GS

Pediatric Rheumatology Online Journal, 2025

OTULIN-Related Autoinflammatory Syndrome With a Novel Mutation Treated With Tumor Necrosis Factor Inhibitor Therapy: A Rare Case Report.

Güngörer V et al.

The Journal of Rheumatology, 2025

Expanding the phenotypic and genetic spectrum of ORAS with novel homozygous variant in OTULIN gene: a case series and literature review.

AlSaleem A et al.

Pediatric Rheumatology Online Journal, 2025

OTULIN-related conditions: Report of a new case and review of the literature using GenIA.

Caballero-Oteyza A et al.

Clinical Immunology (orlando, Fla.), 2024

Dominant negative OTULIN-related autoinflammatory syndrome.

Davidson S et al.

The Journal of Experimental Medicine, 2024

OTULIN-related conditions: Report of a new case and review of the literature using GenIA.

Caballero-Oteyza A et al.

Research Square, 2024

LUBAC regulates ciliogenesis by promoting CP110 removal from the mother centriole.

Shen XL et al.

The Journal of Cell Biology, 2022

LUBAC and OTULIN regulate autophagy initiation and maturation by mediating the linear ubiquitination and the stabilization of ATG13.

Chu Y et al.

Autophagy, 2021

FAM105A/OTULINL Is a Pseudodeubiquitinase of the OTU-Class that Localizes to the ER Membrane.

Ceccarelli DF et al.

Structure (london, England : 1993), 2019

Binding of OTULIN to the PUB domain of HOIP controls NF-κB signaling.

Schaeffer V et al.

Molecular Cell, 2014

The linear ubiquitin-specific deubiquitinase gumby regulates angiogenesis.

Rivkin E et al.

Nature, 2013

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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."