Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR1
Variant:p.H335P
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IFNGR1

NM_000416.3:p.H335P

Associated Papers

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

van de Vosse E et al.

Human Mutation, 2017

Missense splice variant (g.20746A>G, p.Ile183Val) of interferon gamma receptor 1 (IFNGR1) coincidental with mycobacterial osteomyelitis - a screen of osteoarticular lesions.

Bińczak-Kuleta A et al.

Bosnian Journal of Basic Medical Sciences, 2016

Targeted deep sequencing identifies rare loss-of-function variants in IFNGR1 for risk of atopic dermatitis complicated by eczema herpeticum.

Gao L et al.

The Journal of Allergy and Clinical Immunology, 2015

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

Manry J et al.

Human Mutation, 2011

Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1.

van de Wetering D et al.

Molecular Immunology, 2010

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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."