Varaico: Literature-Extracted Genetic Variants

Gene:STING1
Variant:p.N154S
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STING1

NM_198282.4:p.N154S

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

Lung-only involvement in STING-associated vasculopathy with onset in infancy: a diagnostic pitfall in the absence of cutaneous vasculitis.

Kisla Ekinci RM et al.

Zeitschrift Fur Rheumatologie, 2026

STING: a multifaced player in cellular homeostasis.

Song K et al.

Human Molecular Genetics, 2025

Cholesterol sensing by the SCAP-FAM134B complex regulates ER-phagy and STING innate immunity.

Li B et al.

Nature Cell Biology, 2025

Interferons in human inborn errors of disease.

Stine L et al.

Mbio, 2025

Sustained Interferon Signature Suppression With Anifrolumab in a Patient With STING-Associated Vasculopathy with Onset in Infancy Refractory to JAK Inhibitor and Dazukibart Therapy.

Alehashemi S et al.

Arthritis & Rheumatology (hoboken, N.j.), 2025

ArfGAP2 deficiency ameliorates autoinflammation by regulating STING signaling and proton channel activity.

Zhang M et al.

Acta Biochimica Et Biophysica Sinica, 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

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

Yang Z et al.

International Journal of Dermatology, 2025

Response to two Janus kinase inhibitors in a boy with SAVI during 2-year follow-up: case report and literature review.

Chen Y et al.

Frontiers in Immunology, 2025

Advances in the prerequisite and consequence of STING downstream signalosomes.

Lu X et al.

Medical Review (2021), 2024

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

The common Sting1 HAQ, AQ alleles rescue CD4 T cellpenia, restore T-regs, and prevent SAVI (N153S) inflammatory disease in mice.

Aybar-Torres AA et al.

Elife, 2024

A novel STING variant triggers endothelial toxicity and SAVI disease.

Valeri E et al.

The Journal of Experimental Medicine, 2024

STING trafficking activates MAPK-CREB signaling to trigger regulatory T cell differentiation.

Lin W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

The common TMEM173 HAQ, AQ alleles rescue CD4 T cellpenia, restore T-regs, and prevent SAVI (N153S) inflammatory disease in mice.

Aybar-Torres A et al.

Biorxiv : the Preprint Server for Biology, 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

Small molecule induced STING degradation facilitated by the HECT ligase HERC4.

Mutlu M et al.

Nature Communications, 2024

STING signaling in the brain: Molecular threats, signaling activities, and therapeutic challenges.

Yang K et al.

Neuron, 2024

5,6-dimethylxanthenone-4-acetic acid (DMXAA), a partial STING agonist, competes for human STING activation.

Temizoz B et al.

Frontiers in Immunology, 2024

Nuclear localization of STING1 competes with canonical signaling to activate AHR for commensal and intestinal homeostasis.

Zhang R et al.

Immunity, 2023

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

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

Regulation of cGAS and STING signaling during inflammation and infection.

Chauvin SD et al.

The Journal of Biological Chemistry, 2023

Termination of STING responses is mediated via ESCRT-dependent degradation.

Balka KR et al.

The Embo Journal, 2023

STING trafficking as a new dimension of immune signaling.

Jeltema D et al.

The Journal of Experimental Medicine, 2023

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

Pan J et al.

Zoological Research, 2023

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

Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Dai D et al.

Archives of Disease in Childhood, 2022

34134972 (PubMed )
Supplement: archdischild-2021-322058supp001.pdf

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

Janus Kinase Inhibitors in the Treatment of Type I Interferonopathies: A Case Series From a Single Center in China.

Li W et al.

Frontiers in Immunology, 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 cGAS-STING Pathway Affects Vertebral Bone but Does Not Promote Intervertebral Disc Cell Senescence or Degeneration.

Ottone OK et al.

Frontiers in Immunology, 2022

Primary immunodeficiencies in Bulgaria - achievements and challenges of the PID National Expert Center.

Naumova E et al.

Frontiers in Immunology, 2022

36211402 (PubMed )
Supplement: DataSheet_1.pdf

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

The cGAS-STING pathway as a therapeutic target in inflammatory diseases.

Decout A et al.

Nature Reviews. Immunology, 2021

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