Varaico: Literature-Extracted Genetic Variants

Gene:GCGR
Variant:p.R225H
Back to variants list

GCGR

NM_000160.5:p.R225H

Associated Papers

Glucagon Receptor Deficiency Causes Early-Onset Hepatic Steatosis.

Cacciottolo TM et al.

Diabetes, 2025

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

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

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

Glucagon cell hyperplasia and neoplasia with and without glucagon receptor mutations.

Sipos B et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."