Varaico: Literature-Extracted Genetic Variants

Gene:MRAP2
Variant:p.R125C
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MRAP2

NM_138409.4:p.R125C

Associated Papers

Functional characterisation of obesity-associated MRAP2 variants on MC4R and GHSR signalling.

Rodríguez Rondón AV et al.

Human Molecular Genetics, 2026

Association of Mutations in the Melanocortin-2 Receptor Accessory Protein 2 Gene (MRAP2) and Obesity: A Systematic Review and Meta-Analysis.

Ji RL et al.

International Journal of Molecular Sciences, 2026

The accessory protein MRAP2 directly interacts with melanocortin-3 receptor to enhance signaling.

Jamaluddin A et al.

Science Signaling, 2025

Obesity-associated MRAP2 variants impair multiple MC4R-mediated signaling pathways.

Wyatt RA et al.

Human Molecular Genetics, 2025

The MRAP2 accessory protein directly interacts with melanocortin-3 receptor to enhance signaling.

Jamaluddin A et al.

Biorxiv : the Preprint Server for Biology, 2024

Medical semiology of patients with monogenic obesity: A systematic review.

Renard E et al.

Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2024

38956946 (PubMed )
Supplement: supplement_1.pdf

Arginine 125 Is an Essential Residue for the Function of MRAP2.

Fullone MR et al.

International Journal of Molecular Sciences, 2022

Study of LEP, MRAP2 and POMC genes as potential causes of severe obesity in Brazilian patients.

da Fonseca ACP et al.

Eating and Weight Disorders : Ewd, 2021

Emerging roles of melanocortin receptor accessory proteins (MRAP and MRAP2) in physiology and pathophysiology.

Berruien NNA et al.

Gene, 2020

Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.

Baron M et al.

Nature Medicine, 2019

Pharmacological effect of human melanocortin-2 receptor accessory protein 2 variants on hypothalamic melanocortin receptors.

Liang J et al.

Endocrine, 2018

Decreased melanocortin-4 receptor function conferred by an infrequent variant at the human melanocortin receptor accessory protein 2 gene.

Schonnop L et al.

Obesity (silver Spring, Md.), 2016

Melanocortin receptor accessory proteins in adrenal disease and obesity.

Jackson DS et al.

Frontiers in Neuroscience, 2015

Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity.

Asai M et al.

Science (new York, N.y.), 2013

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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."