Varaico: Literature-Extracted Genetic Variants

Gene:RIGI
Variant:p.T347A
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RIGI

NM_014314.4:p.T347A

Associated Papers

Anifrolumab treatment of Singleton-Merten syndrome 2 due to a novel RIGI variant.

Hsu EE et al.

The Journal of Allergy and Clinical Immunology, 2025

Reciprocal regulation of RIG-I and XRCC4 connects DNA repair with RIG-I immune signaling.

Guo G et al.

Nature Communications, 2021

Unified mechanisms for self-RNA recognition by RIG-I Singleton-Merten syndrome variants.

Lässig C et al.

Elife, 2018

ATP hydrolysis by the viral RNA sensor RIG-I prevents unintentional recognition of self-RNA.

Lässig C et al.

Elife, 2015

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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."