Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.M299V
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NLRP3

NM_001243133.2:p.M299V

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

Effect of disease-associated SLC9A9 mutations on protein-protein interaction networks: implications for molecular mechanisms for ADHD and autism.

Zhang-James Y et al.

Attention Deficit and Hyperactivity Disorders, 2019

Genetic architecture for human aggression: A study of gene-phenotype relationship in OMIM.

Zhang-James Y et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2016

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

Sarrabay G et al.

Expert Review of Clinical Immunology, 2015

Consanguinity and genetic diseases in North Africa and immigrants to Europe.

Anwar WA et al.

European Journal of Public Health, 2014

Human gene variants linked to enhanced NLRP3 activity limit intramacrophage growth of Mycobacterium tuberculosis.

Eklund D et al.

The Journal of Infectious Diseases, 2014

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

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