Varaico: Literature-Extracted Genetic Variants

Gene:RIGI
Variant:p.D580E
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RIGI

NM_014314.4:p.D580E

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

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.

Dand N et al.

Nature Communications, 2025

40021644 (PubMed )
Supplement: 41467_2025_56719_MOESM3_ESM.xlsx › Supplementary_Data_20

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

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.

Dand N et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37873414 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_16

IFIH1 and DDX58 gene variants in pediatric rheumatic diseases.

Raupov R et al.

World Journal of Clinical Pediatrics, 2023

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

Azzarà A et al.

Plos One, 2022

Pattern recognition receptor polymorphisms in early periodontitis.

Leite FRM et al.

Journal of Periodontology, 2019

Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.

Jang MA et al.

American Journal of Human Genetics, 2015

Polymorphisms in melanoma differentiation-associated gene 5 link protein function to clearance of hepatitis C virus.

Hoffmann FS et al.

Hepatology (baltimore, Md.), 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-A0CT-01A.domain

Genetic polymorphisms in host innate immune sensor genes and the risk of nasopharyngeal carcinoma in North Africa.

Moumad K et al.

G3 (bethesda, Md.), 2013

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

Vasseur E et al.

Human Molecular Genetics, 2011

Study of human RIG-I polymorphisms identifies two variants with an opposite impact on the antiviral immune response.

Pothlichet J et al.

Plos One, 2009

Multiple sclerosis and polymorphisms of innate pattern recognition receptors TLR1-10, NOD1-2, DDX58, and IFIH1.

Enevold C et al.

Journal of Neuroimmunology, 2009

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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."