Varaico: Literature-Extracted Genetic Variants

Gene:NLRC4
Variant:p.W655C
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NLRC4

NM_001199138.2:p.W655C

Associated Papers

Dysregulation of inflammasomes in autoinflammatory diseases.

Hou C et al.

Joint Bone Spine, 2025

NLRC4, inflammation and colorectal cancer (Review).

Tong G et al.

International Journal of Oncology, 2024

NLRC4 gain-of-function variant is identified in a patient with systemic lupus erythematosus.

Wang Q et al.

Clinical Immunology (orlando, Fla.), 2023

Early-onset recurrent panniculitis as a phenotype of NLRC4-associated autoinflammatory syndrome: Characterization of pathogenicity of the p.Ser445Pro NLRC4 variant.

Gil-Lianes J et al.

The Australasian Journal of Dermatology, 2023

Immune-mediated inflammatory diseases with chronic excess of serum interleukin-18.

Miyazawa H et al.

Frontiers in Immunology, 2022

NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood.

Bardet J et al.

Journal of Clinical Medicine, 2021

A Novel Mutation in the NBD Domain of NLRC4 Causes Mild Autoinflammation With Recurrent Urticaria.

Wang L et al.

Frontiers in Immunology, 2021

NLRC4 biology in immunity and inflammation.

Andrade WA et al.

Journal of Leukocyte Biology, 2020

Structural mechanism for NEK7-licensed activation of NLRP3 inflammasome.

Sharif H et al.

Nature, 2019

Autoinflammation with Infantile Enterocolitis Associated with Recurrent Perianal Abscesses.

Siahanidou T et al.

Journal of Clinical Immunology, 2019

Autoinflammatory mutation in NLRC4 reveals a leucine-rich repeat (LRR)-LRR oligomerization interface.

Moghaddas F et al.

The Journal of Allergy and Clinical Immunology, 2018

An Update on Autoinflammatory Diseases: Inflammasomopathies.

Harapas CR et al.

Current Rheumatology Reports, 2018

Rapamycin as an Adjunctive Therapy for NLRC4 Associated Macrophage Activation Syndrome.

Barsalou J et al.

Frontiers in Immunology, 2018

Novel Gene Deletion in NLRC4 Expanding the Familial Cold Inflammatory Syndrome Phenotype.

Jeskey J et al.

Allergy & Rhinology (providence, R.i.), 0

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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."