Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.R556*
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NLRP3

NM_004895.5:p.R556*

Associated Papers

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

Feng S et al.

Nature Immunology, 2025

The discovery of NLRP3 and its function in cryopyrin-associated periodic syndromes and innate immunity.

Putnam CD et al.

Immunological Reviews, 2024

Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Denisova E et al.

Cancer Gene Therapy, 2022

34045664 (PubMed )
Supplement: 41417_2021_347_MOESM4_ESM.xls › C000-ZZP8UU

Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2021

Alternative splicing regulates stochastic NLRP3 activity.

Hoss F et al.

Nature Communications, 2019

CAPS and NLRP3.

Booshehri LM et al.

Journal of Clinical Immunology, 2019

NLRP3 lacking the leucine-rich repeat domain can be fully activated via the canonical inflammasome pathway.

Hafner-Bratkovič I et al.

Nature Communications, 2018

[Genetics of cryopyrin-associated periodic syndrome].

Kümmerle-Deschner JB et al.

Zeitschrift Fur Rheumatologie, 2017

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

Sarrabay G et al.

Expert Review of Clinical Immunology, 2015

Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder.

Jéru I et al.

Arthritis and Rheumatism, 2010

A cryopyrin-associated periodic syndrome with joint destruction.

Lequerré T et al.

Rheumatology (oxford, England), 2007

PYPAF1 nonsense mutation in a patient with an unusual autoinflammatory syndrome: role of PYPAF1 in inflammation.

Jéru I et al.

Arthritis and Rheumatism, 2006

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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."