Varaico: Literature-Extracted Genetic Variants

Gene:STING1
Variant:p.R71H
Back to variants list

STING1

NM_198282.4:p.R71H

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

STING: a multifaced player in cellular homeostasis.

Song K et al.

Human Molecular Genetics, 2025

Nitrofuran-Based STING Inhibitors.

Barasa L et al.

Acs Omega, 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

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

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

Yang K et al.

Neuron, 2024

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

Khorasani M

Cytokine, 2024

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

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

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

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

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

STING Signaling and Sterile Inflammation.

Couillin I et al.

Frontiers in Immunology, 2021

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

STING modulators: Predictive significance in drug discovery.

Cui X et al.

European Journal of Medicinal Chemistry, 2019

TMEM173 variants and potential importance to human biology and disease.

Patel S et al.

Genes and Immunity, 2019

STING SNP R293Q Is Associated with a Decreased Risk of Aging-Related Diseases.

Hamann L et al.

Gerontology, 2019

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles.

Keskitalo S et al.

Frontiers in Immunology, 2019

Multiple Homozygous Variants in the STING-Encoding TMEM173 Gene in HIV Long-Term Nonprogressors.

Nissen SK et al.

Journal of Immunology (baltimore, Md. : 1950), 2018

Suppression of STING signaling through epigenetic silencing and missense mutation impedes DNA damage mediated cytokine production.

Konno H et al.

Oncogene, 2018

29367762 (PubMed )
Supplement: NIHMS928440-supplement-1.pdf

The common HAQ STING variant impairs cGAS-dependent antibacterial responses and is associated with susceptibility to Legionnaires' disease in humans.

Ruiz-Moreno JS et al.

Plos Pathogens, 2018

Intrinsic antiproliferative activity of the innate sensor STING in T lymphocytes.

Cerboni S et al.

The Journal of Experimental Medicine, 2017

Comment on "The Common R71H-G230A-R293Q Human TMEM173 Is a Null Allele".

Sivick KE et al.

Journal of Immunology (baltimore, Md. : 1950), 2017

Response to Comment on "The Common R71H-G230A-R293Q Human TMEM173 Is a Null Allele".

Patel S et al.

Journal of Immunology (baltimore, Md. : 1950), 2017

Correction: The Common R71H-G230A-R293Q Human TMEM173 Is a Null Allele.

Patel S et al.

Journal of Immunology (baltimore, Md. : 1950), 2017

Tofacitinib relieves symptoms of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173.

Seo J et al.

The Journal of Allergy and Clinical Immunology, 2017

The Common R71H-G230A-R293Q Human TMEM173 Is a Null Allele.

Patel S et al.

Journal of Immunology (baltimore, Md. : 1950), 2017

1–50 of 55 papers
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."