Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.T405P
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NLRP3

NM_001243133.2:p.T405P

Associated Papers

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

Feng S et al.

Nature Immunology, 2025

39930093 (PubMed )
Supplement: 41590_2025_2088_MOESM3_ESM.xlsx › Table_1

Otological aspects of NLRP3-related autoinflammatory disorder focusing on the responsiveness to anakinra.

Kim BJ et al.

Rheumatology (oxford, England), 2021

CAPS and NLRP3.

Booshehri LM et al.

Journal of Clinical Immunology, 2019

Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Gaggiano C et al.

Mediators of Inflammation, 2019

Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Martorana D et al.

Frontiers in Immunology, 2017

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

Sarrabay G et al.

Expert Review of Clinical Immunology, 2015

Hereditary autoinflammatory syndromes: a Brazilian multicenter study.

Jesus AA et al.

Journal of Clinical Immunology, 2012

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

Conforti-Andreoni C et al.

Cellular & Molecular Immunology, 2011

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

Jha S et al.

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

The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model.

Aksentijevich I et al.

Arthritis and Rheumatism, 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."