Varaico: Literature-Extracted Genetic Variants

Gene:RIGI
Variant:p.S183I
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RIGI

NM_014314.4:p.S183I

Associated Papers

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 genetics of innate immunity sensors and human disease.

Pothlichet J et al.

International Reviews of Immunology, 2013

Type I IFN triggers RIG-I/TLR3/NLRP3-dependent inflammasome activation in influenza A virus infected cells.

Pothlichet J et al.

Plos Pathogens, 2013

Structure and dynamics of the second CARD of human RIG-I provide mechanistic insights into regulation of RIG-I activation.

Ferrage F et al.

Structure (london, England : 1993), 2012

C-type lectin receptors and RIG-I-like receptors: new points on the oncogenomics map.

Kutikhin AG et al.

Cancer Management and Research, 2012

Identification and characterization of a loss-of-function human MPYS variant.

Jin L et al.

Genes and Immunity, 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

Identification of loss of function mutations in human genes encoding RIG-I and MDA5: implications for resistance to type I diabetes.

Shigemoto T et al.

The Journal of Biological Chemistry, 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."