Varaico: Literature-Extracted Genetic Variants

Gene:STING1
Variant:p.R293Q
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STING1

NM_198282.4:p.R293Q

Associated Papers

Immune gene diversity and STING1 variants in shaping cancer immunity across different genetic ancestry populations.

Hu X et al.

Cell Reports, 2026

Discovery of the thieno[2,3-b][1,4]thiazin-2(3H)-one STING inhibitors.

Han L et al.

Bioorganic & Medicinal Chemistry, 2026

Identification of common human TMEM173 genotypes associated with Alzheimer's disease.

Usher MR et al.

Journal of Alzheimer's Disease : Jad, 2026

Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.

Kuligina ES et al.

Cancers, 2025

41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a

Nitrofuran-Based STING Inhibitors.

Barasa L et al.

Acs Omega, 2025

Association of TMEM173/STING1 Gene Variants with Severe COVID-19 Among Fully Vaccinated vs. Non-Vaccinated Individuals.

Vázquez-Coto D et al.

Life (basel, Switzerland), 2025

Microglial STING is a central safeguard against neurological decline with age.

Sulka KB et al.

Cell Reports, 2025

Cell biological insights into human STING variants.

Koide S et al.

Cell Structure and Function, 2025

Interaction Between HAQ-STING Mutation and COPA: Protection Against COPA Syndrome.

Lehrer S

Cureus, 2025

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

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

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

cGAS-STING pathway mediates activation of dendritic cell sensing of immunogenic tumors.

Li G et al.

Cellular and Molecular Life Sciences : Cmls, 2024

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

Yang K et al.

Neuron, 2024

Design, synthesis, and cell-based in vitro assay of deoxyinosine-mixed SATE-dCDN prodrugs that activate all common STING variants.

Xie Z et al.

Organic & Biomolecular Chemistry, 2024

Role of cGAS-STING in colorectal cancer: A new window for treatment strategies.

Khorasani M

Cytokine, 2024

Whole exome sequencing identifies genetic markers of enterovirus susceptibility in East Asians.

Sung CC et al.

Frontiers in Microbiology, 2024

39234544 (PubMed )
Supplement: Data_Sheet_2.xlsx › worksheet

At the Crossroads of the cGAS-cGAMP-STING Pathway and the DNA Damage Response: Implications for Cancer Progression and Treatment.

Korneenko TV et al.

Pharmaceuticals (basel, Switzerland), 2023

The common H232 STING allele shows impaired activities in DNA sensing, susceptibility to viral infection, and in monocyte cell function, while the HAQ variant possesses wild-type properties.

Froechlich G et al.

Scientific Reports, 2023

Development of LB244, an Irreversible STING Antagonist.

Barasa L et al.

Journal of the American Chemical Society, 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

Interplay between human STING genotype and bacterial NADase activity regulates inter-individual disease variability.

Movert E et al.

Nature Communications, 2023

STING Suppresses Mitochondrial VDAC2 to Govern RCC Growth Independent of Innate Immunity.

Zhu Z et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2023

Multifaceted functions of STING in human health and disease: from molecular mechanism to targeted strategy.

Zhang Z et al.

Signal Transduction and Targeted Therapy, 2022

MPYS Modulates Fatty Acid Metabolism and Immune Tolerance at Homeostasis Independent of Type I IFNs.

Mansouri S et al.

Journal of Immunology (baltimore, Md. : 1950), 2022

Genetic variants involved in the cGAS-STING pathway predict outcome in patients with metastatic colorectal cancer: Data from FIRE-3 and TRIBE trials.

Wang J et al.

European Journal of Cancer (oxford, England : 1990), 2022

A Baseline Cellular Antiviral State Is Maintained by cGAS and Its Most Frequent Naturally Occurring Variant rs610913.

Kazmierski J et al.

Journal of Immunology (baltimore, Md. : 1950), 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

STING orchestrates the crosstalk between polyunsaturated fatty acid metabolism and inflammatory responses.

Vila IK et al.

Cell Metabolism, 2022

Functional coding haplotypes and machine-learning feature elimination identifies predictors of Methotrexate Response in Rheumatoid Arthritis patients.

Lim AJW et al.

Ebiomedicine, 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

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

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

Decout A et al.

Nature Reviews. Immunology, 2021

Protein-Ligand Interactions in the STING Binding Site Probed by Rationally Designed Single-Point Mutations: Experiment and Theory.

Vavřina Z et al.

Biochemistry, 2021

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1

Synthesis and biological evaluation of all possible inosine-mixed cyclic dinucleotides that activate different hSTING variants.

Wang Z et al.

Bioorganic & Medicinal Chemistry, 2021

Association of homozygous variants of STING1 with outcome in human cervical cancer.

Lubbers JM et al.

Cancer Science, 2021

Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.

Sharma P et al.

Frontiers in Genetics, 2021

34054914 (PubMed )
Supplement: Data_Sheet_1.zip › Table_4.XLSX › Sheet1

The Innate Immune cGAS-STING-Pathway in Cardiovascular Diseases - A Mini Review.

Rech L et al.

Frontiers in Cardiovascular Medicine, 2021

STING Signaling and Sterile Inflammation.

Couillin I et al.

Frontiers in Immunology, 2021

COVID-19 as a STING disorder with delayed over-secretion of interferon-beta.

Berthelot JM et al.

Ebiomedicine, 2020

Self-assembled cGAMP-STINGΔTM signaling complex as a bioinspired platform for cGAMP delivery.

He Y et al.

Science Advances, 2020

Obesity and STING1 genotype associate with 23-valent pneumococcal vaccination efficacy.

Sebastian M et al.

Jci Insight, 2020

Selective Loss of Responsiveness to Exogenous but Not Endogenous Cyclic-Dinucleotides in Mice Expressing STING-R231H.

Walker MM et al.

Frontiers in Immunology, 2020

Characterization of a Novel Compound That Stimulates STING-Mediated Innate Immune Activity in an Allele-Specific Manner.

Abraham J et al.

Frontiers in Immunology, 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

Polymorphisms in STING Affect Human Innate Immune Responses to Poxviruses.

Kennedy RB et al.

Frontiers in Immunology, 2020

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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."