Varaico: Literature-Extracted Genetic Variants

Gene:MRAP2
Variant:p.R125H
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MRAP2

NM_138409.4:p.R125H

Associated Papers

Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity.

Faccioli N et al.

Obesity (silver Spring, Md.), 2026

41451896 (PubMed )
Supplement: OBY-34-499-s001.xlsx › Variant_details

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

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

Wyatt RA et al.

Human Molecular Genetics, 2025

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

Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.

Liu Y et al.

Molecular Cancer, 2023

37543594 (PubMed )
Supplement: 12943_2023_1828_MOESM2_ESM.xlsx › supplementaryTable_1B

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

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

Copy number variation (CNV) analysis and mutation analysis of the 6q14.1-6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients.

Geets E et al.

Molecular Genetics and Metabolism, 2016

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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."