Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.P315L
Back to variants list

NLRP3

NM_001243133.2:p.P315L

Associated Papers

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

Feng S et al.

Nature Immunology, 2025

Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Jain A et al.

Journal, Genetic Engineering & Biotechnology, 2021

34905135 (PubMed )
Supplement: 43141_2021_268_MOESM2_ESM.xlsx › Sheet1

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

Muckle-Wells syndrome: a rare hereditary cryopyrin-associated periodic syndrome.

Wakhlu A et al.

International Journal of Rheumatic Diseases, 2017

The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy.

Vitale A et al.

Internal and Emergency Medicine, 2017

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

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

Conforti-Andreoni C et al.

Cellular & Molecular Immunology, 2011

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

Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes.

Cantarini L et al.

International Journal of Immunopathology and Pharmacology, 0

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."