Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.C495Y
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NOD2

NM_022162.3:p.C495Y

Associated Papers

Blau syndrome with hypertension and hepatic granulomas: a case report and literature review.

Yao F et al.

Frontiers in Pediatrics, 2023

Palmitoylation restricts SQSTM1/p62-mediated autophagic degradation of NOD2 to modulate inflammation.

Zhou L et al.

Cell Death and Differentiation, 2022

Blau syndrome NOD2 mutations result in loss of NOD2 cross-regulatory function.

Mao L et al.

Frontiers in Immunology, 2022

Blau syndrome following a bacterial infection.

Sidiqi A et al.

Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2020

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › M121224

Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators.

Parkhouse R et al.

Febs Letters, 2014

Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation, G481D, in CARD15.

Okada S et al.

Rheumatology (oxford, England), 2009

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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."