Varaico: Literature-Extracted Genetic Variants

Gene:STING1
Variant:p.V147L
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STING1

NM_198282.4:p.V147L

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

Discovery of the thieno[2,3-b][1,4]thiazin-2(3H)-one STING inhibitors.

Han L et al.

Bioorganic & Medicinal Chemistry, 2026

STING: a multifaced player in cellular homeostasis.

Song K et al.

Human Molecular Genetics, 2025

STING COPII ER Export Trafficking and Signaling Primed by Phosphorylation Switches.

Nan Y et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

Interferons in human inborn errors of disease.

Stine L et al.

Mbio, 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

Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.

Feng M et al.

Nature Communications, 2024

39333476 (PubMed )
Supplement: 41467_2024_52580_MOESM4_ESM.xlsx › impact_ps_mutations

A novel STING variant triggers endothelial toxicity and SAVI disease.

Valeri E et al.

The Journal of Experimental Medicine, 2024

Computational insights into the conformational transition of STING: Mechanistic, energetic considerations, and the influence of crucial mutations.

Li Z et al.

Journal of Molecular Graphics & Modelling, 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

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

Strategies involving STING pathway activation for cancer immunotherapy: Mechanism and agonists.

Pan X et al.

Biochemical Pharmacology, 2023

The ubiquitin E3 ligase TRIM10 promotes STING aggregation and activation in the Golgi apparatus.

Kong L et al.

Cell Reports, 2023

Current understanding of the cGAS-STING signaling pathway: Structure, regulatory mechanisms, and related diseases.

Pan J et al.

Zoological Research, 2023

Structural insights into a shared mechanism of human STING activation by a potent agonist and an autoimmune disease-associated mutation.

Xie Z et al.

Cell Discovery, 2022

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

Shen D et al.

Medicine, 2022

Human induced pluripotent stem cells generated from STING-associated vasculopathy with onset in infancy (SAVI) patients with a heterozygous mutation in the STING gene.

Mehta A et al.

Stem Cell Research, 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

Transcription-independent regulation of STING activation and innate immune responses by IRF8 in monocytes.

Luo WW et al.

Nature Communications, 2022

How Fragile We Are: Influence of Stimulator of Interferon Genes (STING) Variants on Pathogen Recognition and Immune Response Efficiency.

Morere J et al.

Journal of Chemical Information and Modeling, 2022

The transmembrane endoplasmic reticulum-associated E3 ubiquitin ligase TRIM13 restrains the pathogenic-DNA-triggered inflammatory response.

Li X et al.

Science Advances, 2022

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

David C et al.

Cells, 2022

The relationship between defects in DNA repair genes and autoinflammatory diseases.

Kivanc D et al.

Rheumatology International, 2022

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

Kang J et al.

Frontiers in Immunology, 2022

Dysregulation of the cGAS-STING Pathway in Monogenic Autoinflammation and Lupus.

Wobma H 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

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

The STING phase-separator suppresses innate immune signalling.

Yu X et al.

Nature Cell Biology, 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

STING Signaling and Sterile Inflammation.

Couillin I 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

Case Report: Acute Thrombotic Microangiopathy in a Patient with STING-Associated Vasculopathy with Onset in Infancy (SAVI).

Ma M et al.

Journal of Clinical Immunology, 2020

The cGAS-STING pathway: The role of self-DNA sensing in inflammatory lung disease.

Ma R et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020

Toward a better understanding of type I interferonopathies: a brief summary, update and beyond.

Yu ZX et al.

World Journal of Pediatrics : Wjp, 2020

APOL1-Associated Collapsing Focal Segmental Glomerulosclerosis in a Patient With Stimulator of Interferon Genes (STING)-Associated Vasculopathy With Onset in Infancy (SAVI).

Abid Q et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 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

The Challenge of Diagnosing SAVI: Case Studies.

Cao Y et al.

Pediatric Allergy, Immunology, and Pulmonology, 2019

STING modulators: Predictive significance in drug discovery.

Cui X et al.

European Journal of Medicinal Chemistry, 2019

STING Polymer Structure Reveals Mechanisms for Activation, Hyperactivation, and Inhibition.

Ergun SL et al.

Cell, 2019

Cryo-EM structures of STING reveal its mechanism of activation by cyclic GMP-AMP.

Shang G et al.

Nature, 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."