Varaico: Literature-Extracted Genetic Variants

Gene:IFIH1
Variant:p.H843R
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IFIH1

NM_022168.4:p.H843R

Associated Papers

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

Gene variants of interferon induced with helicase C domain 1 in Japanese patients with Dermatomyositis-associated rapidly progressive interstitial lung disease: a genetic association study using whole-exome and Sanger sequencing.

Okamoto M et al.

Respiratory Research, 2025

Molecular basis of autoimmune disease protection by MDA5 variants.

Singh R et al.

Cell Reports, 2025

The perfect storm: unraveling the interplay of genetic predisposition and viral triggers in type 1 diabetes pathogenesis.

Veronese-Paniagua DA et al.

Frontiers in Endocrinology, 2025

Genetic variations in Interferon-Induced with Helicase C Domain 1: Impact on COVID-19 risk and severity in the Moroccan population.

Aqillouch S et al.

Human Immunology, 2024

Stratified analyses refine association between TLR7 rare variants and severe COVID-19.

Boos J et al.

Hgg Advances, 2024

38944683 (PubMed )
Supplement: mmc4.xlsx › single_variants_p_lt_0.05

Type I interferon associated epistasis may contribute to early disease-onset and high disease activity in juvenile-onset lupus.

Renaudineau Y et al.

Clinical Immunology (orlando, Fla.), 2024

Genome-Wide Association Study Identifies IFIH1 and HLA-DQB1*05:02 Loci Associated With Anti-NMDAR Encephalitis.

Liu X et al.

Neurology(r) Neuroimmunology & Neuroinflammation, 2024

The IFIH1-A946T risk variant promotes diabetes in a sex-dependent manner.

Stock AJ et al.

Biorxiv : the Preprint Server for Biology, 2024

The IFIH1-A946T risk variant promotes diabetes in a sex-dependent manner.

Stock AJ et al.

Frontiers in Immunology, 2024

Association of IFIH1 and DDX58 genes polymorphism with susceptibility to COVID-19.

Feizollahi P et al.

Medical Microbiology and Immunology, 2023

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

El-Gazzar A et al.

Embo Molecular Medicine, 2023

36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant

Understanding the genetic basis of immune responses to fungal infection.

Gonçalves SM et al.

Expert Review of Anti-infective Therapy, 2022

Association Among MIF, IFIH1, and IL6 Gene Polymorphisms and Non-Segmental Vitiligo in a Chinese Han Population.

Wang D et al.

Clinical, Cosmetic and Investigational Dermatology, 2022

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

Azzarà A et al.

Plos One, 2022

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__

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

Genetic variants in IFIH1 and DDX58 influence hepatitis C virus clearance in Chinese Han population.

Zhu XB et al.

Journal of Medical Virology, 2019

The role of IFIH1 gene rs1990760 and rs2111485 single-nucleotide polymorphisms in generalized vitiligo predisposition

Onan D et al.

Turkish Journal of Medical Sciences, 2019

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles.

Keskitalo S et al.

Frontiers in Immunology, 2019

How much of the predisposition to Hashimoto's thyroiditis can be explained based on previously reported associations?

Jabrocka-Hybel A et al.

Journal of Endocrinological Investigation, 2018

Association of gene polymorphisms of pattern-recognition receptor signaling pathway with the risk and severity of hand, foot, and mouth disease caused by enterovirus 71 in Chinese Han population.

Li YP et al.

Journal of Medical Virology, 2018

The A946T variant of the RNA sensor IFIH1 mediates an interferon program that limits viral infection but increases the risk for autoimmunity.

Gorman JA et al.

Nature Immunology, 2017

Polymorphisms in IFIH1: the good and the bad.

Della Mina E et al.

Nature Immunology, 2017

Multiple Functional Variants of IFIH1, a Gene Involved in Triggering Innate Immune Responses, Protect against Vitiligo.

Jin Y et al.

The Journal of Investigative Dermatology, 2017

Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2.

Visschedijk MC et al.

Plos One, 2016

27490946 (PubMed )
Supplement: pone.0159609.s002.xlsx › Results_Discovery_phase_I

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyB

Association analysis of PTPN22, CTLA4 and IFIH1 genes with type 1 diabetes in Colombian families.

Rodríguez A et al.

Journal of Diabetes, 2015

Cumulative effect of IFIH1 variants and increased gene expression associated with type 1 diabetes.

Zurawek M et al.

Diabetes Research and Clinical Practice, 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-A2-A0ER-01A.domain

Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Szeto CY et al.

Febs Open Bio, 2014

24490137 (PubMed )
Supplement: mmc5.xlsx › all_info

Assessment of genetic associations between common single nucleotide polymorphisms in RIG-I-like receptor and IL-4 signaling genes and severe respiratory syncytial virus infection in children: a candidate gene case-control study.

Marr N et al.

Plos One, 2014

A low-frequency GLIS3 variant associated with resistance to Japanese type 1 diabetes.

Awata T et al.

Biochemical and Biophysical Research Communications, 2013

Polymorphisms in the interferon-induced helicase (IFIH1) locus and susceptibility to Addison's disease.

Zurawek M et al.

Clinical Endocrinology, 2013

Carriers of rare missense variants in IFIH1 are protected from psoriasis.

Li Y et al.

The Journal of Investigative Dermatology, 2010

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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."