Varaico: Literature-Extracted Genetic Variants

Gene:TRIM22
Variant:p.R321K
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TRIM22

NM_006074.5:p.R321K

Associated Papers

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

Ghorbanpour A et al.

Molecular Medicine (cambridge, Mass.), 2026

Genetic Variants in Early-Onset Inflammatory Bowel Disease: Monogenic Causes and Clinical Implications.

Demirtas Guner D et al.

Children (basel, Switzerland), 2025

Regulatory Mechanisms and Therapeutic Implications of Lysosomal Dysfunction in Alzheimer's Disease.

Kim Y et al.

International Journal of Biological Sciences, 2025

TRIM22 functions as a scaffold protein for autophagy initiation.

Park H et al.

Animal Cells and Systems, 2025

The space-time continuum in neurological disorders of the autophagosome-lysosome fusion machinery.

Dafsari HS et al.

Autophagy Reports, 2025

Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.

Pasternak Y et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

38800615 (PubMed )
Supplement: mmc2.xlsx › P1-potential_comp.het

TRIM22 facilitates autophagosome-lysosome fusion by mediating the association of GABARAPs and PLEKHM1.

Heo H et al.

Autophagy, 2024

A Comprehensive Machine Learning Framework for the Exact Prediction of the Age of Onset in Familial and Sporadic Alzheimer's Disease.

Vélez JI et al.

Diagnostics (basel, Switzerland), 2021

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

APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer's disease.

Vélez JI et al.

Molecular Psychiatry, 2016

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

24983760 (PubMed )
Supplement: pone.0101436.s004.xlsx › Sheet1
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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."