Varaico: Literature-Extracted Genetic Variants

Gene:STING1
Variant:p.H72N
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STING1

NM_198282.4:p.H72N

Associated Papers

STING: a multifaced player in cellular homeostasis.

Song K et al.

Human Molecular Genetics, 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

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

Yang Z et al.

International Journal of Dermatology, 2025

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

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

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

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

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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."