Varaico: Literature-Extracted Genetic Variants

Gene:RIGI
Variant:p.R71H
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RIGI

NM_014314.4:p.R71H

Associated Papers

Polymorphism of the RNF165 Gene in American Mink (Neogale vison) as a Potential Factor Responsible for Resistance to Infection with the Aleutian Mink Disease Virus.

Mazurkiewicz I et al.

Genes, 2025

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

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

Identification of variants in genes associated with autoinflammatory disorders in a cohort of patients with psoriatic arthritis.

Atschekzei F et al.

Rmd Open, 2022

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

Azzarà A et al.

Plos One, 2022

Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing.

Sandling JK et al.

Annals of the Rheumatic Diseases, 2021

33037003 (PubMed )
Supplement: annrheumdis-2020-218636supp002.pdf

Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.

McCreary D et al.

Jama Network Open, 2019

31664448 (PubMed )
Supplement: jamanetwopen-2-e1914274-s001.pdf

Host Single Nucleotide Polymorphisms Modulating Influenza A Virus Disease in Humans.

Nogales A et al.

Pathogens (basel, Switzerland), 2019

Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.

Vidmar L et al.

Scientific Reports, 2019

31235738 (PubMed )
Supplement: 41598_2019_45598_MOESM2_ESM.xlsx › Sheet1

Defective RNA sensing by RIG-I in severe influenza virus infection.

Jørgensen SE et al.

Clinical and Experimental Immunology, 2018

Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.

Dand N et al.

Human Molecular Genetics, 2017

28973304 (PubMed )
Supplement: dand_exomewideassociationstudy_hmg_2017_supplementaryexcel_ddx328.xlsx › Supp_Table_10

Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

Ostrowski J et al.

Scientific Reports, 2016

28008999 (PubMed )
Supplement: srep39831-s2.xls › Table_S7

Single nucleotide polymorphisms of human STING can affect innate immune response to cyclic dinucleotides.

Yi G et al.

Plos One, 2013

The selective footprints of viral pressures at the human RIG-I-like receptor family.

Vasseur E et al.

Human Molecular Genetics, 2011

Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.

Luty AA et al.

Bmc Neurology, 2008

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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."