Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.R262L
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NLRP3

NM_004895.5:p.R262L

Associated Papers

Mechanisms of NLRP3 activation and inhibition elucidated by functional analysis of disease-associated variants.

Feng S et al.

Nature Immunology, 2025

The phenotype and genotype of Chinese adult patients with NLRP3-associated autoinflammatory disease.

Wu N et al.

Clinical Rheumatology, 2023

MCC950/CRID3 potently targets the NACHT domain of wild-type NLRP3 but not disease-associated mutants for inflammasome inhibition.

Vande Walle L et al.

Plos Biology, 2019

CAPS and NLRP3.

Booshehri LM et al.

Journal of Clinical Immunology, 2019

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › e__Freq_TP095

Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.

Sarrabay G et al.

Expert Review of Clinical Immunology, 2015

The inflammasomes in health and disease: from genetics to molecular mechanisms of autoinflammation and beyond.

Conforti-Andreoni C et al.

Cellular & Molecular Immunology, 2011

Two adult siblings with atypical cryopyrin-associated periodic syndrome due to a novel M299V mutation in NLRP3.

Verma D et al.

Arthritis and Rheumatism, 2010

Inflammasome-associated nucleotide-binding domain, leucine-rich repeat proteins and inflammatory diseases.

Jha S et al.

Journal of Immunology (baltimore, Md. : 1950), 2009

New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes.

Maksimovic L et al.

Rheumatology (oxford, England), 2008

A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome.

Kanegane H et al.

European Journal of Pediatrics, 2008

NOD2 gene-associated pediatric granulomatous arthritis: clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort.

Aróstegui JI et al.

Arthritis and Rheumatism, 2007

[Clinical features of Blau syndrome and early-onset sarcoidosis and associating CARD15/NOD2 gene mutations].

Kanazawa N

Nihon Rinsho Men'eki Gakkai Kaishi = Japanese Journal of Clinical Immunology, 2007

Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.

Neven B et al.

Blood, 2004

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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."