Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.Y794Splc
Back to variants list

NOD2

NM_001370466.1:p.Y794Splc

Associated Papers

Genetic coding variant in complement factor B (CFB) is associated with increased risk for perianal Crohn's disease and leads to impaired CFB cleavage and phagocytosis.

Akhlaghpour M et al.

Gut, 2023

Association between nucleotide-binding oligomerization domain protein 2 (NOD2) gene polymorphisms and Parkinson's disease (PD) susceptibility.

Xu M et al.

Artificial Cells, Nanomedicine, and Biotechnology, 2019

Mutations in the NOD2 gene are associated with a specific phenotype and lower anti-tumor necrosis factor trough levels in Crohn's disease.

Schäffler H et al.

Journal of Digestive Diseases, 2018

Pregnane X Receptor Polymorphisms and Risk of Inflammatory Bowel Disease: A Meta-Analysis.

Guo X et al.

Immunological Investigations, 2017

Systematic meta-analyses and field synopsis of genetic and epigenetic studies in paediatric inflammatory bowel disease.

Li X et al.

Scientific Reports, 2016

27670835 (PubMed )
Supplement: srep34076-s1.pdf

The NOD2 Single Nucleotide Polymorphism rs72796353 (IVS4+10 A>C) Is a Predictor for Perianal Fistulas in Patients with Crohn's Disease in the Absence of Other NOD2 Mutations.

Schnitzler F et al.

Plos One, 2015

Prediction of Crohn's disease aggression through NOD2/CARD15 gene sequencing in an Australian cohort.

Bhullar M et al.

World Journal of Gastroenterology, 2014

Blau syndrome-associated mutations in exon 4 of the caspase activating recruitment domain 15 (CARD 15) gene are not found in ethnic Danes with sarcoidosis.

Milman N et al.

The Clinical Respiratory Journal, 2007

CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease.

Lesage S et al.

American Journal of Human Genetics, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."