Varaico: Literature-Extracted Genetic Variants

Gene:GCGR
Variant:p.D63N
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GCGR

NM_000160.5:p.D63N

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

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

Sipos B et al.

Endocrine-related Cancer, 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

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1

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

Yu R

The Biochemical Journal, 2020

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

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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."