Varaico: Literature-Extracted Genetic Variants

Gene:STING1
Variant:p.G158A
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STING1

NM_198282.4:p.G158A

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

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

A novel STING variant triggers endothelial toxicity and SAVI disease.

Valeri E et al.

The Journal of Experimental Medicine, 2024

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

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

Shen D et al.

Medicine, 2022

Human STING Is Regulated by an Autoinhibitory Mechanism for Type I Interferon Production.

Qi S et al.

Journal of Innate Immunity, 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

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

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

Shang G et al.

Nature, 2019

A case of STING-associated vasculopathy with onset in infancy with novel STING1 variant.

Barry KK et al.

Pediatric Dermatology, 0

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