Varaico: Literature-Extracted Genetic Variants

Gene:TLR3
Variant:p.P554S
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TLR3

NM_003265.3:p.P554S

Associated Papers

"In silico analysis of human TLR3 missense single nucleotide polymorphisms and their potential association with cancer".

Agarwal M et al.

Scientific Reports, 2025

Interferons in human inborn errors of disease.

Stine L et al.

Mbio, 2025

Registry-Based Frequency and Clinical Characteristics of Inborn Errors of Immunity in Kazakhstan: A Retrospective Observational Cohort Study (2009-2023).

Sikhayeva N et al.

Journal of Clinical Medicine, 2025

Analyses of haplotypes of TLR2 and TLR3 genes for COVID-19 prognosis in a cohort of professionals who worked in the first pandemic wave in Belém-PA, Brazil.

Silva MJA et al.

Frontiers in Genetics, 2025

Genetic defects of brain immunity in childhood herpes simplex encephalitis.

Zhang SY et al.

Nature, 2024

Concomitant Ultrarare Mutations in TLR3 and CTPS2 in a Patient with Severe and Recurrent Respiratory Infections in Early Life.

Bougarn S et al.

Journal of Clinical Immunology, 2024

39312089 (PubMed )
Supplement: 10875_2024_1804_MOESM1_ESM.docx

Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.

Pasternak Y et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

38800615 (PubMed )
Supplement: mmc2.xlsx › P4-dominant

Inborn errors of type I interferon immunity in patients with symptomatic acute hepatitis E.

Saadat A et al.

Hepatology (baltimore, Md.), 2024

Multiple inborn errors of type I IFN immunity in a 33-year-old male with a fatal case of COVID-19.

Saheb Sharif-Askari N et al.

Heliyon, 2024

Innate immune responses to RNA: sensing and signaling.

Luan X et al.

Frontiers in Immunology, 2024

Inborn Errors of Immunity Predisposing to Herpes Simplex Virus Infections of the Central Nervous System.

Skouboe MK et al.

Pathogens (basel, Switzerland), 2023

Genetic adaptation to pathogens and increased risk of inflammatory disorders in post-Neolithic Europe.

Kerner G et al.

Cell Genomics, 2023

The association of COVID-19 severity and susceptibility and genetic risk factors: A systematic review of the literature.

Ishak A et al.

Gene, 2022

Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis-Further Impact of Heterozygous Immune Disorder Gene Variants?

Seidel F et al.

Journal of Cardiovascular Development and Disease, 2022

Life-Threatening Enterovirus 71 Encephalitis in Unrelated Children with Autosomal Dominant TLR3 Deficiency.

Kuo CY et al.

Journal of Clinical Immunology, 2022

Pathogenic P554S Variant in TLR3 in a Patient with Severe Influenza Pneumonia.

Bucciol G et al.

Journal of Clinical Immunology, 2022

An overview of human proteins and genes involved in SARS-CoV-2 infection.

Jahanafrooz Z et al.

Gene, 2022

Human genetic basis of severe or critical illness in COVID-19.

Ji XS et al.

Frontiers in Cellular and Infection Microbiology, 2022

Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families.

Azzarà A et al.

Plos One, 2022

Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis.

Chen J et al.

The Journal of Experimental Medicine, 2021

Toll-Like Receptor Signaling in the Establishment and Function of the Immune System.

Aluri J et al.

Cells, 2021

Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of the Germ and Genetic Theories.

Casanova JL et al.

Annual Review of Pathology, 2021

COVID-19: The Effect of Host Genetic Variations on Host-Virus Interactions.

Chakravarty S

Journal of Proteome Research, 2021

Pathogenic TLR3 Variant in a Patient with Recurrent Herpes Simplex Virus 1-Triggered Erythema Multiforme.

Bucciol G et al.

Journal of Clinical Immunology, 2021

Genetic variability in COVID-19-related genes in the Brazilian population.

Secolin R et al.

Human Genome Variation, 2021

The role of host genetics in susceptibility to severe viral infections in humans and insights into host genetics of severe COVID-19: A systematic review.

Elhabyan A et al.

Virus Research, 2020

Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis.

Partanen T et al.

Journal of Clinical Immunology, 2020

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.

Zhang Q et al.

Science (new York, N.y.), 2020

Distinct and Orchestrated Functions of RNA Sensors in Innate Immunity.

Liu G et al.

Immunity, 2020

TLR2 2029C/T and TLR3 1377C/T and -7C/A Polymorphisms Are Associated with the Occurrence of Abdominal Aortic Aneurysm.

Jabłońska A et al.

Journal of Immunology (baltimore, Md. : 1950), 2020

Severe influenza pneumonitis in children with inherited TLR3 deficiency.

Lim HK et al.

The Journal of Experimental Medicine, 2019

Toll-like receptor polymorphism in host immune response to infectious diseases: A review.

Mukherjee S et al.

Scandinavian Journal of Immunology, 2019

TLR3 Mutations in Adult Patients With Herpes Simplex Virus and Varicella-Zoster Virus Encephalitis.

Sironi M et al.

The Journal of Infectious Diseases, 2017

Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis.

Belkaya S et al.

Journal of the American College of Cardiology, 2017

Association of TLR3 L412F Polymorphism with Cytomegalovirus Infection in Children.

Studzińska M et al.

Plos One, 2017

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease

Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis.

Mørk N et al.

Genes and Immunity, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-BH-A0E7-01A.domain

TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk.

Lim HK et al.

Neurology, 2014

The ectodomain of TLR3 receptor is required for its plasma membrane translocation.

Pohar J et al.

Plos One, 2014

A functional polymorphism in the promoter region of TLR3 is associated with susceptibility to end-stage renal disease.

Yang HY et al.

American Journal of Nephrology, 2014

Different selective pressures shape the evolution of Toll-like receptors in human and African great ape populations.

Quach H et al.

Human Molecular Genetics, 2013

Human primary immunodeficiencies causing defects in innate immunity.

Wong T et al.

Current Opinion in Allergy and Clinical Immunology, 2013

Insights into the European rabbit (Oryctolagus cuniculus) innate immune system: genetic diversity of the toll-like receptor 3 (TLR3) in wild populations and domestic breeds.

Abrantes J et al.

Bmc Genetics, 2013

Toll-like receptors and human disease: lessons from single nucleotide polymorphisms.

Lin YT et al.

Current Genomics, 2012

Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity.

Guo Y et al.

The Journal of Experimental Medicine, 2011

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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."