Varaico: Literature-Extracted Genetic Variants

Gene:GCGR
Variant:p.P86S
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GCGR

NM_000160.5:p.P86S

Associated Papers

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

Well-differentiated G1 and G2 pancreatic neuroendocrine tumors: a meta-analysis of published expanded DNA sequencing data.

Andersen KØ et al.

Frontiers in Endocrinology, 2024

38868744 (PubMed )
Supplement: DataSheet_1.docx

Glucagon cell hyperplasia and neoplasia: a recently recognized endocrine receptor disease.

Sipos B et al.

Endocrine-related Cancer, 2023

Diffuse, Adult-Onset Nesidioblastosis/Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome (NIPHS): Review of the Literature of a Rare Cause of Hyperinsulinemic Hypoglycemia.

Dieterle MP et al.

Biomedicines, 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

34801547 (PubMed )
Supplement: mmc1.pdf

The V369M Gcgr knock-in mice are a precision medicine model of mild Mahvash disease.

Yu R

The Biochemical Journal, 2020

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

Increased SLC38A4 Amino Acid Transporter Expression in Human Pancreatic α-Cells After Glucagon Receptor Inhibition.

Kim J et al.

Endocrinology, 2019

The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine.

Li H et al.

Molecular Genetics and Metabolism Reports, 2018

Hypercalcemia in Glucagon Cell Hyperplasia and Neoplasia (Mahvash Syndrome): A New Association.

Gild ML et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

Text Mining Genotype-Phenotype Relationships from Biomedical Literature for Database Curation and Precision Medicine.

Singhal A et al.

Plos Computational Biology, 2016

Glucagon receptor gene mutations with hyperglucagonemia but without the glucagonoma syndrome.

Miller HC et al.

World Journal of Gastrointestinal Surgery, 2015

Conditional deletion of Men1 in the pancreatic β-cell leads to glucagon-expressing tumor development.

Li F et al.

Endocrinology, 2015

Glucagon cell adenomatosis without glucagon receptor mutation.

Al-Sarireh B et al.

Pancreas, 2013

Rescue of a pathogenic mutant human glucagon receptor by pharmacological chaperones.

Yu R et al.

Journal of Molecular Endocrinology, 2012

Pancreatic neuroendocrine tumors in glucagon receptor-deficient mice.

Yu R et al.

Plos One, 2011

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

A natural inactivating mutant of human glucagon receptor exhibits multiple abnormalities in processing and signaling.

Yu R et al.

Endocrinologia Y Nutricion : Organo De La Sociedad Espanola De Endocrinologia Y Nutricion, 0

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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."