Varaico: Literature-Extracted Genetic Variants

Gene:STING1
Variant:p.R284G
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STING1

NM_198282.4:p.R284G

Associated Papers

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

Response to two Janus kinase inhibitors in a boy with SAVI during 2-year follow-up: case report and literature review.

Chen Y et al.

Frontiers in Immunology, 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

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

Regulation of cGAS and STING signaling during inflammation and infection.

Chauvin SD et al.

The Journal of Biological Chemistry, 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

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

Association of homozygous variants of STING1 with outcome in human cervical cancer.

Lubbers JM et al.

Cancer Science, 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

A novel STING1 variant causes a recessive form of STING-associated vasculopathy with onset in infancy (SAVI).

Lin B et al.

The Journal of Allergy and Clinical Immunology, 2020

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

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles.

Keskitalo S et al.

Frontiers in Immunology, 2019

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

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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