Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR1
Variant:p.V14M
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IFNGR1

NM_000416.3:p.V14M

Associated Papers

Genetic association of beta-lactams-induced hypersensitivity reactions: A systematic review of genome-wide evidence and meta-analysis of candidate genes.

Lumkul L et al.

The World Allergy Organization Journal, 2023

37780578 (PubMed )
Supplement: mmc1.doc

Base editing screens map mutations affecting interferon-γ signaling in cancer.

Coelho MA et al.

Cancer Cell, 2023

36669486 (PubMed )
Supplement: mmc4.xlsx › BE_variants_-clinical_relevance

T Cell Defects: New Insights Into the Primary Resistance Factor to CD19/CD22 Cocktail CAR T-Cell Immunotherapy in Diffuse Large B-Cell Lymphoma.

Wang J et al.

Frontiers in Immunology, 2022

35572515 (PubMed )
Supplement: Table_2.xlsx › S6

Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing.

Varzari A et al.

Frontiers in Genetics, 2022

Whole genome sequencing identifies novel genetic mutations in patients with eczema herpeticum.

Bin L et al.

Allergy, 2021

Whole-exome sequencing reveals a rare interferon gamma receptor 1 mutation associated with myasthenia gravis.

Qi G et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018

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

A regulatory polymorphism in interferon-gamma receptor 1 promoter is associated with the susceptibility to chronic hepatitis B virus infection.

Zhou J et al.

Immunogenetics, 2009

Correlation between some Th1 and Th2 cytokine receptor gene polymorphisms and systemic lupus erythematosus in Chinese patients.

Xu Y et al.

International Journal of Dermatology, 2007

The interferon-gamma receptor gene polymorphisms (Val14Met and Gln64Arg) are not associated with systemic lupus erythematosus in Chinese patients.

Yao X et al.

Archives of Dermatological Research, 2007

IL-10 promoter and IL4-Ralpha gene SNPs are associated with immediate beta-lactam allergy in atopic women.

Guglielmi L et al.

Allergy, 2006

IFNGR1 single nucleotide polymorphisms in rheumatoid arthritis.

Mattyasovszky S et al.

Arthritis Research & Therapy, 2006

[Polymorphisms within the interferon-Gamma receptor associated with systemic lupus erythematosus].

Yao X et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005

Defects in the interferon-gamma and interleukin-12 pathways.

Rosenzweig SD et al.

Immunological Reviews, 2005

No association between interferon-gamma receptor-1 gene polymorphism and pulmonary tuberculosis in a Gambian population sample.

Awomoyi AA et al.

Thorax, 2004

Congenital defects in the interferon-gamma/interleukin-12 pathway.

Rosenzweig SD et al.

Current Opinion in Pediatrics, 2004

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

Association of IFN-gamma and IFN regulatory factor 1 polymorphisms with childhood atopic asthma.

Nakao F et al.

The Journal of Allergy and Clinical Immunology, 2001

Receptor polymorphisms and diseases.

Császár A et al.

European Journal of Pharmacology, 2001

The combination of polymorphisms within interferon-gamma receptor 1 and receptor 2 associated with the risk of systemic lupus erythematosus.

Nakashima H et al.

Febs Letters, 1999

Association of the interferon-gamma receptor variant (Val14Met) with systemic lupus erythematosus.

Tanaka Y et al.

Immunogenetics, 1999

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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."