Varaico: Literature-Extracted Genetic Variants

Gene:STING1
Variant:p.R284S
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STING1

NM_198282.4:p.R284S

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

41626295 (PubMed )
Supplement: mmc1.pdf

STING: a multifaced player in cellular homeostasis.

Song K et al.

Human Molecular Genetics, 2025

Cysteine allostery and autoinhibition govern human STING oligomer functionality.

Chan R et al.

Nature Chemical Biology, 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

IKKɛ induces STING non-IFN immune responses via a mechanism analogous to TBK1.

Venkatraman R et al.

Iscience, 2024

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

Weidler S et al.

Pediatric Rheumatology Online Journal, 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

Regulation of cGAS and STING signaling during inflammation and infection.

Chauvin SD et al.

The Journal of Biological Chemistry, 2023

SEL1L-HRD1 endoplasmic reticulum-associated degradation controls STING-mediated innate immunity by limiting the size of the activable STING pool.

Ji Y et al.

Nature Cell Biology, 2023

ESCRT-dependent STING degradation inhibits steady-state and cGAMP-induced signalling.

Gentili M et al.

Nature Communications, 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

UNC13D inhibits STING signaling by attenuating its oligomerization on the endoplasmic reticulum.

Song P et al.

Embo Reports, 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

Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2021

STING-Mediated Lung Inflammation and Beyond.

Frémond ML et al.

Journal of Clinical Immunology, 2021

Functional Asplenia and Specific Polysaccharide Antibody Deficiency in a Girl with SAVI.

Bijker EM 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

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 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

STING palmitoylation as a therapeutic target.

Hansen AL et al.

Cellular & Molecular Immunology, 2019

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles.

Keskitalo S et al.

Frontiers in Immunology, 2019

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

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