Varaico: Literature-Extracted Genetic Variants

Gene:STING1
Variant:p.C206Y
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STING1

NM_198282.4:p.C206Y

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

STING: a multifaced player in cellular homeostasis.

Song K et al.

Human Molecular Genetics, 2025

A novel STING1-activating mutation is identified in a patient with childhood-onset systemic lupus erythematosus.

Li T et al.

Clinical Immunology (orlando, Fla.), 2025

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

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

Treatment of STING-associated vasculopathy with onset in infancy in patients carrying a novel mutation in the TMEM173 gene with the JAK3-inhibitor tofacitinib.

Tokgun PE et al.

Archives of Rheumatology, 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

Hereditary Systemic Autoinflammatory Diseases: Therapeutic Stratification.

Kul Cinar O et al.

Frontiers in Pediatrics, 2022

Post-Translational Modifications of STING: A Potential Therapeutic Target.

Kang J et al.

Frontiers 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

Stimulator of Interferon Genes-associated Vasculopathy with an Onset in Infancy Diagnosed after the Development of Atypical Pulmonary Lesions During Treatment as Juvenile Idiopathic Arthritis.

Nishida T et al.

Internal Medicine (tokyo, Japan), 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

STING Operation at the ER/Golgi Interface.

Taguchi T 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

The Challenge of Diagnosing SAVI: Case Studies.

Cao Y et al.

Pediatric Allergy, Immunology, and Pulmonology, 2019

STING palmitoylation as a therapeutic target.

Hansen AL et al.

Cellular & Molecular Immunology, 2019

Severe combined immunodeficiency in stimulator of interferon genes (STING) V154M/wild-type mice.

Bouis D et al.

The Journal of Allergy and Clinical Immunology, 2019

TMEM173 variants and potential importance to human biology and disease.

Patel S et al.

Genes and Immunity, 2019

G3BP1 promotes DNA binding and activation of cGAS.

Liu ZS et al.

Nature Immunology, 2019

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles.

Keskitalo S et al.

Frontiers in Immunology, 2019

31866997 (PubMed )
Supplement: Data_Sheet_1.docx

The binding of TBK1 to STING requires exocytic membrane traffic from the ER.

Ogawa E et al.

Biochemical and Biophysical Research Communications, 2018

Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING.

Konno H et al.

Cell Reports, 2018

A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in Infancy.

Saldanha RG et al.

Frontiers in Immunology, 2018

Type I interferon-mediated autoinflammation due to DNase II deficiency.

Rodero MP et al.

Nature Communications, 2017

29259162 (PubMed )
Supplement: 41467_2017_1932_MOESM1_ESM.pdf

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.

Melki I et al.

The Journal of Allergy and Clinical Immunology, 2017

Genomics, Biology, and Human Illness: Advances in the Monogenic Autoinflammatory Diseases.

Oda H et al.

Rheumatic Diseases Clinics of North America, 2017

STING-associated vasculopathy with onset in infancy (SAVI) presenting with skin lesions.

Latour-Álvarez I et al.

Pediatric Dermatology, 0

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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."