Varaico: Literature-Extracted Genetic Variants

Gene:STING1
Variant:p.G207E
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STING1

NM_198282.4:p.G207E

Associated Papers

An additional site mutation in MITA/STING gain-of-function mutants abolishes the autoimmune SAVI phenotypes and directs a therapeutic strategy.

Li FX et al.

Cell Insight, 2026

Tmem110 regulates the conformation of TRPML1 to maintain endolysosomal homeostasis and prevent mitochondrial DNA leakage and pathological self-DNA processing.

Feng Z et al.

Nature Communications, 2026

Cell biological insights into human STING variants.

Koide S et al.

Cell Structure and Function, 2025

Mosaic TMEM173 gene mutation R284S leading to STING-associated vasculopathy with onset in infancy (SAVI).

Yang Z et al.

International Journal of Dermatology, 2025

A novel STING variant triggers endothelial toxicity and SAVI disease.

Valeri E et al.

The Journal of Experimental Medicine, 2024

Membrane traffic governs the STING inflammatory signalling.

Taguchi T

Journal of Biochemistry, 2023

ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling.

Hirschenberger M et al.

Nature Communications, 2023

Case report: JAK1/2 inhibition with baricitinib in the treatment of STING-associated vasculopathy with onset in infancy.

Wu J et al.

Pediatric Rheumatology Online Journal, 2023

Use of Tofacitinib for infant-onset STING-associated vasculopathy: A case report from China.

Shen D et al.

Medicine, 2022

Intracellular Sensing of DNA in Autoinflammation and Autoimmunity.

MacLauchlan S et al.

Arthritis & Rheumatology (hoboken, N.j.), 2022

MITA/STING-mediated antiviral immunity and autoimmunity: the evolution, mechanism, and intervention.

Zhong B et al.

Current Opinion in Immunology, 2022

The activity of disease-causative STING variants can be suppressed by wild-type STING through heterocomplex formation.

Shindo R et al.

Frontiers in Cell and Developmental Biology, 2022

Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2021

STING-Mediated Lung Inflammation and Beyond.

Frémond ML et al.

Journal of Clinical Immunology, 2021

STING-associated vasculopathy with onset in infancy: a familial case series report and literature review.

Wang Y et al.

Annals of Translational Medicine, 2021

Case Report: Novel SAVI-Causing Variants in STING1 Expand the Clinical Disease Spectrum and Suggest a Refined Model of STING Activation.

Lin B et al.

Frontiers in Immunology, 2021

Familial Interstitial Lung Disease Caused by Mutation of the STING1 Gene.

Li J et al.

Frontiers in Pediatrics, 2020

Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension of the Phenotypic Spectrum, Case Report and Review of the Literature.

Staels F et al.

Frontiers in Immunology, 2020

Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Systematic Review of Case Reports.

Dai Y et al.

Frontiers in Pediatrics, 2020

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles.

Keskitalo S et al.

Frontiers in Immunology, 2019

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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."