Varaico: Literature-Extracted Genetic Variants

Gene:STING1
Variant:p.R281Q
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STING1

NM_198282.4:p.R281Q

Associated Papers

Bilateral lung transplantation for severe lung disease caused by a STING1 mutation: A case report.

Lv Y et al.

Transplant Immunology, 2026

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

41626295 (PubMed )
Supplement: mmc1.pdf

STING: a multifaced player in cellular homeostasis.

Song K et al.

Human Molecular Genetics, 2025

Interferons in human inborn errors of disease.

Stine L et al.

Mbio, 2025

Severe interstitial lung disease as the first manifestation of a STING1 variant in a familial case.

Kang Z et al.

Immunologic Research, 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

ArfGAP2 promotes STING proton channel activity, cytokine transit, and autoinflammation.

Poddar S et al.

Cell, 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

IRF3 activates RB to authorize cGAS-STING-induced senescence and mitigate liver fibrosis.

Wu Q et al.

Science Advances, 2024

A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report.

Weidler S et al.

Pediatric Rheumatology Online Journal, 2024

Nuclear localization of STING1 competes with canonical signaling to activate AHR for commensal and intestinal homeostasis.

Zhang R et al.

Immunity, 2023

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

Complex Allele with Additive Gain-of-Function STING1 Variants in a Patient with Cavitating Lung Lesions and Aspergillosis.

Guffroy A et al.

Journal of Clinical Immunology, 2022

A non-canonical cGAS-STING-PERK pathway facilitates the translational program critical for senescence and organ fibrosis.

Zhang D et al.

Nature Cell Biology, 2022

Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Dai D et al.

Archives of Disease in Childhood, 2022

34134972 (PubMed )
Supplement: archdischild-2021-322058supp001.pdf

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

Kang J et al.

Frontiers in Immunology, 2022

Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases.

Wan R 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

Induced phase separation of mutant NF2 imprisons the cGAS-STING machinery to abrogate antitumor immunity.

Meng F et al.

Molecular Cell, 2021

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

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

STING Gain-of-Function Disrupts Lymph Node Organogenesis and Innate Lymphoid Cell Development in Mice.

Bennion BG et al.

Cell Reports, 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

A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings.

Alghamdi MA et al.

Frontiers in Immunology, 2020

The Challenge of Diagnosing SAVI: Case Studies.

Cao Y et al.

Pediatric Allergy, Immunology, and Pulmonology, 2019

Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome.

Volpi S et al.

Journal of Clinical Immunology, 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

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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."