Varaico: Literature-Extracted Genetic Variants

Gene:STING1
Variant:p.G166E
Back to variants list

STING1

NM_198282.4:p.G166E

Associated Papers

Identification of a Novel Heterozygous Variant c.497g>a (p.gly166glu) in Exon 5 of the Sting1 Gene as the Causative Factor of Sting-Associated Vasculopathy With Onset in Infancy (SAVI): A Case Report.

Mansilla-Polo M et al.

Actas Dermo-sifiliograficas, 2025

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

Mosaic TMEM173 gene mutation R284S leading to STING-associated vasculopathy with onset in infancy (SAVI).

Yang Z et al.

International Journal of Dermatology, 2025

Emerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus.

Goldbach-Mansky R et al.

Nature Reviews. Rheumatology, 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

Membrane traffic governs the STING inflammatory signalling.

Taguchi T

Journal of Biochemistry, 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

Monogenic lupus: Tracing the therapeutic implications from single gene mutations.

Jia X et al.

Clinical Immunology (orlando, Fla.), 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

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

MITA/STING-mediated antiviral immunity and autoimmunity: the evolution, mechanism, and intervention.

Zhong B et al.

Current Opinion in Immunology, 2022

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

David C et al.

Cells, 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 inhibitors target the cyclic dinucleotide binding pocket.

Hong Z et al.

Proceedings of the National Academy of Sciences of the United States of America, 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

The STING phase-separator suppresses innate immune signalling.

Yu X et al.

Nature Cell Biology, 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 Signaling and Sterile Inflammation.

Couillin I et al.

Frontiers in Immunology, 2021

New Horizons in the Genetic Etiology of Systemic Lupus Erythematosus and Lupus-Like Disease: Monogenic Lupus and Beyond.

Demirkaya E et al.

Journal of Clinical Medicine, 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

33133092 (PubMed )
Supplement: Data_Sheet_1.docx

Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Systematic Review of Case Reports.

Dai Y et al.

Frontiers in Pediatrics, 2020

STING modulators: Predictive significance in drug discovery.

Cui X et al.

European Journal of Medicinal Chemistry, 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

Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING.

Konno H et al.

Cell Reports, 2018

[Familial chilblain lupus : Type 1 interferonopathy with model character].

Fiehn C

Zeitschrift Fur Rheumatologie, 2017

Regulating STING in health and disease.

Li Y et al.

Journal of Inflammation (london, England), 2017

cGAS-cGAMP-STING: The three musketeers of cytosolic DNA sensing and signaling.

Tao J et al.

Iubmb Life, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."