Varaico: Literature-Extracted Genetic Variants

Gene:GCGR
Variant:p.G40S
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GCGR

NM_000160.5:p.G40S

Associated Papers

The Glucagon Receptor Is Expressed in the Frontal Cortex and Impaired Signaling Associates With Cognitive Decline.

Kjeldsen SAS et al.

Journal of the Endocrine Society, 2025

Determinants of plasma levels of proglucagon and the metabolic impact of glucagon receptor signalling: a UK Biobank study.

Winther-Sørensen M et al.

Diabetologia, 2024

Downregulation of the kidney glucagon receptor, essential for renal function and systemic homeostasis, contributes to chronic kidney disease.

Wang MY et al.

Cell Metabolism, 2024

The ubiquitination status of the glucagon receptor determines signal bias.

Kaur S et al.

The Journal of Biological Chemistry, 2023

Molecular and in vivo phenotyping of missense variants of the human glucagon receptor.

van der Velden WJC et al.

The Journal of Biological Chemistry, 2022

Significant variants of type 2 diabetes in the Arabian Region through an Integration of exome databases.

Goto K et al.

Plos One, 2021

Characterization of a naturally occurring mutation V368M in the human glucagon receptor and its association with metabolic disorders.

Lin G et al.

The Biochemical Journal, 2020

Detection and analysis of glucose metabolism-related genes in childhood diabetes using targeted next-generation sequencing: In pediatric population-a hospital-based study.

Wang X et al.

Experimental and Therapeutic Medicine, 2020

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Xiang J et al.

Scientific Reports, 2020

31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1

Introducing the first whole genomes of nationals from the United Arab Emirates.

AlSafar HS et al.

Scientific Reports, 2019

31604968 (PubMed )
Supplement: 41598_2019_50876_MOESM1_ESM.xlsx › UAE_S002

Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

John SE et al.

Scientific Reports, 2018

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.

Arnadottir GA et al.

Nature Communications, 2018

30361506 (PubMed )
Supplement: 41467_2018_6964_MOESM1_ESM.pdf

Renal potassium handling in carriers of the Gly40Ser mutation of the glucagon receptor suggests a role for glucagon in potassium homeostasis.

Bankir L et al.

Physiological Reports, 2018

Inhibitory mechanism of an allosteric antibody targeting the glucagon receptor.

Mukund S et al.

The Journal of Biological Chemistry, 2013

Homozygous P86S mutation of the human glucagon receptor is associated with hyperglucagonemia, alpha cell hyperplasia, and islet cell tumor.

Zhou C et al.

Pancreas, 2009

Genetics of salt-sensitive hypertension.

Strazzullo P et al.

Current Hypertension Reports, 2007

Genetics of type 2 diabetes mellitus: status and perspectives.

Hansen L et al.

Diabetes, Obesity & Metabolism, 2005

Combination of renin-angiotensin system polymorphisms is associated with altered renal sodium handling and hypertension.

Siani A et al.

Hypertension (dallas, Tex. : 1979), 2004

Neuropeptide gene polymorphisms and human behavioural disorders.

Inui A

Nature Reviews. Drug Discovery, 2003

Analysis of Gly40Ser polymorphism of the glucagon receptor (GCGR) gene in different ethnic groups.

Barbato A et al.

Journal of Human Hypertension, 2003

Polymorphisms of the insulin receptor substrate-2 in patients with type 2 diabetes.

D'Alfonso R et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits.

Florez JC et al.

Annual Review of Genomics and Human Genetics, 2003

The Trp64Arg beta3-adrenergic receptor amino acid variant confers increased sensitivity to the pressor effects of noradrenaline in Sardinian subjects.

Melis MG et al.

Clinical Science (london, England : 1979), 2002

Role of the Gly40Ser mutation in the glucagon receptor gene in Brazilian patients with type 2 diabetes mellitus.

Shiota D et al.

Pancreas, 2002

Gly40Ser polymorphism of the glucagon receptor gene is associated with central adiposity in men.

Siani A et al.

Obesity Research, 2001

Altered renal sodium handling and hypertension in men carrying the glucagon receptor gene (Gly40Ser) variant.

Strazzullo P et al.

Journal of Molecular Medicine (berlin, Germany), 2001

Chromosome 17 and the inducible nitric oxide synthase gene in human essential hypertension.

Rutherford S et al.

Human Genetics, 2001

[Gly40Ser mutation of glucagon receptor gene and NIDDM in Han nationality].

Deng H et al.

Hunan Yi Ke Da Xue Xue Bao = Hunan Yike Daxue Xuebao = Bulletin of Hunan Medical University, 2001

The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes.

Altshuler D et al.

Nature Genetics, 2000

[Molecular genetics of essential hypertension. Susceptibility and resistance genes].

Pirola CJ

Medicina, 2000

Glucagon receptor gene mutation (Gly40Ser) in human essential hypertension: the PEGASE study.

Brand E et al.

Hypertension (dallas, Tex. : 1979), 1999

Analysis of the Gly40Ser polymorphism in the glucagon receptor gene in a German non-insulin-dependent diabetes mellitus population.

Ambrosch A et al.

Clinical Chemistry and Laboratory Medicine, 1999

Different frequencies of inducible nitric oxide synthase genotypes in older hypertensives.

Glenn CL et al.

Hypertension (dallas, Tex. : 1979), 1999

Screening for the Gly40Ser mutation in the glucagon receptor gene among patients with type 2 diabetes or essential hypertension in Taiwan.

Huang CN et al.

Pancreas, 1999

Association of Trp64Arg beta 3-adrenergic-receptor gene polymorphism with essential hypertension in the Sardinian population.

Tonolo G et al.

Journal of Hypertension, 1999

G-protein beta3 subunit gene (GNB3) variant in causation of essential hypertension.

Benjafield AV et al.

Hypertension (dallas, Tex. : 1979), 1998

Influence of family history on frequency of glucagon receptor Gly40Ser mutation in hypertensive subjects.

Morris BJ et al.

Hypertension (dallas, Tex. : 1979), 1997

Glucagon receptor Gly40Ser amino acid variant in Sardinian hypertensive non-insulin-dependent diabetic patients. Sardinian Diabetic Genetic Study Group (SDGSG).

Tonolo G et al.

Acta Diabetologica, 1997

Physiological and genetic characterization of the Gly40Ser mutation in the glucagon receptor gene in the Sardinian population. The Sardinian Diabetes Genetic Study Group.

Tonolo G et al.

Diabetologia, 1997

Polymorphism of the glucagon receptor gene and non-insulin-dependent diabetes mellitus in the Russian population.

Babadjanova G et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 1997

Absence of association between the Gly40-->Ser mutation in the human glucagon receptor and Japanese patients with non-insulin-dependent diabetes mellitus or impaired glucose tolerance.

Odawara M et al.

Human Genetics, 1996

Gly40Ser mutation of glucagon receptor gene and essential hypertension in Japanese.

Fujisawa T et al.

Hypertension (dallas, Tex. : 1979), 1996

Hypothesis: glucagon receptor glycine to serine missense mutation contributes to one in 20 cases of essential hypertension.

Morris BJ et al.

Clinical and Experimental Pharmacology & Physiology, 1996

The Gly40Ser mutation in the human glucagon receptor gene associated with NIDDM results in a receptor with reduced sensitivity to glucagon.

Hansen LH et al.

Diabetes, 1996

Role of mitochondrial DNA tRNA leucine and glucagon receptor missense mutations in Utah white diabetic patients.

Elbein SC et al.

Diabetes Care, 1996

Gly40Ser substitution in the glucagon receptor is rarely involved in the pathogenesis of NIDDM in Japanese patients.

Odawara M et al.

Diabetes Care, 1996

Restricted geographical extension of the association of a glucagon receptor gene mutation (Gly40Ser) with non-insulin-dependent diabetes mellitus.

Ristow M et al.

Diabetes Research and Clinical Practice, 1996

Association of Trp64Arg mutation of the beta3-adrenergic-receptor with NIDDM and body weight gain.

Fujisawa T et al.

Diabetologia, 1996

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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."