Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.G301S
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NLRP3

NM_001243133.2:p.G301S

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

Computational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic Syndromes.

Samson JM et al.

Frontiers in Immunology, 2020

Clinical utility gene card for: prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes).

Witsch-Baumgartner M et al.

European Journal of Human Genetics : Ejhg, 2015

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

Sarrabay G et al.

Expert Review of Clinical Immunology, 2015

[Report of a child with neonatal-onset multisystem inflammatory disease and review of the literature].

Guan N et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014

An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvement.

Touitou I et al.

European Journal of Human Genetics : Ejhg, 2009

Clinical and genetic characterization of Italian patients affected by CINCA syndrome.

Caroli F et al.

Rheumatology (oxford, England), 2007

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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."