Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR1
Variant:p.G180R
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IFNGR1

NM_000416.3:p.G180R

Associated Papers

Protein domains provide a new layer of information for classifying human variations in rare diseases.

Corcuff M et al.

Frontiers in Bioinformatics, 2023

36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1

IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database.

van de Vosse E et al.

Human Mutation, 2017

No significant impact of IFN-γ pathway gene variants on tuberculosis susceptibility in a West African population.

Meyer CG et al.

European Journal of Human Genetics : Ejhg, 2016

Evolutionary genetics evidence of an essential, nonredundant role of the IFN-γ pathway in protective immunity.

Manry J et al.

Human Mutation, 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."