Varaico: Literature-Extracted Genetic Variants

Gene:RIGI
Variant:p.E510V
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RIGI

NM_014314.4:p.E510V

Associated Papers

A novel pathogenic mutation of DDX58 causes Singleton-Merten syndrome.

Peng S et al.

Fundamental Research, 2025

Local activation of mutant RIG-I by short noncoding Y-RNA in the kidney triggers lethal nephritis.

Satoh S et al.

Science Immunology, 2025

Clinical Implications of a New DDX58 Pathogenic Variant That Causes Lupus Nephritis due to RIG-I Hyperactivation.

Peng J et al.

Journal of the American Society of Nephrology : Jasn, 2023

A loosened gating mechanism of RIG-I leads to autoimmune disorders.

Lei Y et al.

Nucleic Acids Research, 2022

DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation.

Prasov L et al.

Journal of Medical Genetics, 2022

Immunogenetics of the Ocular Anterior Segment: Lessons from Inherited Disorders.

Serpen JY et al.

Journal of Ophthalmology, 2021

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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."