Varaico: Literature-Extracted Genetic Variants

Gene:NLRC4
Variant:p.D303N
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NLRC4

NM_001199138.2:p.D303N

Associated Papers

An updated review on phenocopies of primary immunodeficiency diseases.

Singh A et al.

Genes & Diseases, 2020

Novel aspects of the assembly and activation of inflammasomes with focus on the NLRC4 inflammasome.

Fusco WG et al.

International Immunology, 2018

NLRP3 inflammasome inhibition is disrupted in a group of auto-inflammatory disease CAPS mutations.

Mortimer L et al.

Nature Immunology, 2016

Genomic and molecular characterization of esophageal squamous cell carcinoma.

Lin DC et al.

Nature Genetics, 2014

24686850 (PubMed )
Supplement: NIHMS573166-supplement-1.pdf

Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients.

Saito M et al.

Blood, 2008

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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."