Varaico: Literature-Extracted Genetic Variants

Gene:RIGI
Variant:p.R546Q
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RIGI

NM_014314.4:p.R546Q

Associated Papers

Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.

Sobel Naveh NS et al.

Hepatology Communications, 2022

35507738 (PubMed )
Supplement: HEP4-6-2132-s005.xlsx › Supplemental_Table_1.

Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.

Aitkulova A et al.

Biomedical Reports, 2022

35815187 (PubMed )
Supplement: Supplementary_Data.xlsx › 713_shortlisted_variants

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

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

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

A rare coding allele in IFIH1 is protective for psoriatic arthritis.

Budu-Aggrey A et al.

Annals of the Rheumatic Diseases, 2017

28501801 (PubMed )
Supplement: annrheumdis-2016-210592supp001.pdf

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

Vasseur E et al.

Human Molecular Genetics, 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."