Varaico: Literature-Extracted Genetic Variants

Gene:STING1
Variant:p.V147M
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STING1

NM_198282.4:p.V147M

Associated Papers

STING: a multifaced player in cellular homeostasis.

Song K et al.

Human Molecular Genetics, 2025

Cell biological insights into human STING variants.

Koide S et al.

Cell Structure and Function, 2025

Unraveling the diagnostic odyssey: stimulator of interferon gene-associated vasculopathy with onset in infancy in a 30-year-old female.

Kim HR et al.

Journal of Rheumatic Diseases, 2024

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

Clathrin-associated AP-1 controls termination of STING signalling.

Liu Y et al.

Nature, 2022

36261523 (PubMed )
Supplement: 41586_2022_5354_MOESM5_ESM.xlsx › Extended_Data_Fig.5_e_g_i

Lung Inflammation in STING-Associated Vasculopathy with Onset in Infancy (SAVI).

David C et al.

Cells, 2022

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

Kang J et al.

Frontiers in Immunology, 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

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

The Ca2+ sensor STIM1 regulates the type I interferon response by retaining the signaling adaptor STING at the endoplasmic reticulum.

Srikanth S et al.

Nature 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

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

Intrinsic antiproliferative activity of the innate sensor STING in T lymphocytes.

Cerboni S et al.

The Journal of Experimental Medicine, 2017

Tofacitinib relieves symptoms of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173.

Seo J et al.

The Journal of Allergy and Clinical Immunology, 2017

Failure to thrive, interstitial lung disease, and progressive digital necrosis with onset in infancy.

Chia J et al.

Journal of the American Academy of Dermatology, 2016

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