Varaico: Literature-Extracted Genetic Variants

Gene:TRIM22
Variant:p.S244L
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TRIM22

NM_006074.5:p.S244L

Associated Papers

Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.

Ghorbanpour A et al.

Molecular Medicine (cambridge, Mass.), 2026

Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.

Kernan KF et al.

Journal of Clinical Immunology, 2022

34973142 (PubMed )
Supplement: 10875_2021_1183_MOESM7_ESM.xlsx › data.and.gnomad.MAF.chi.sq.BH.c

Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes.

Ashton JJ et al.

Clinical and Translational Gastroenterology, 2020

Extracting Complementary Insights from Molecular Phenotypes for Prioritization of Disease-Associated Mutations.

Wierbowski SD et al.

Current Opinion in Systems Biology, 2018

Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease.

Li Q et al.

Gastroenterology, 2016

In silico analysis of functional single nucleotide polymorphisms in the human TRIM22 gene.

Kelly JN et al.

Plos One, 2014

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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."