Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR1
Variant:p.L467P
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IFNGR1

NM_000416.3:p.L467P

Associated Papers

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM14_ESM.xlsx › S14

Mannose-binding lectin 2 gene polymorphisms and their association with tuberculosis in a Chinese population.

Zhang JX et al.

Infectious Diseases of Poverty, 2020

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

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

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

Association study of polymorphisms in interferon-γ receptor genes with the risk of pulmonary tuberculosis.

Shin JG et al.

Molecular Medicine Reports, 2015

Clinical characteristics and immunogenetics of BCGosis/BCGitis in Chinese children: a 6 year follow-up study.

Ying W et al.

Plos One, 2014

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

IFNGR1 polymorphisms in Thai malaria patients.

Naka I et al.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2009

Polymorphism within the interferon-gamma/receptor complex is associated with pulmonary tuberculosis.

Cooke GS et al.

American Journal of Respiratory and Critical Care Medicine, 2006

IFNGR1 single nucleotide polymorphisms in rheumatoid arthritis.

Mattyasovszky S et al.

Arthritis Research & Therapy, 2006

A novel single-nucleotide substitution, Leu 467 Pro, in the interferon-gamma receptor 1 gene associated with allergic diseases.

Aoki M et al.

International Journal of Molecular Medicine, 2003

Missense mutations of the interleukin-12 receptor beta 1(IL12RB1) and interferon-gamma receptor 1 (IFNGR1) genes are not associated with susceptibility to lepromatous leprosy in Korea.

Lee SB et al.

Immunogenetics, 2003

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