Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.R165G
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MC4R

NM_005912.3:p.R165G

Associated Papers

High-resolution deep mutational scanning of the melanocortin-4 receptor enables target characterization for drug discovery.

Howard CJ et al.

Elife, 2025

40202051 (PubMed )
Supplement: elife-104725-supp1.xlsx › Supplementary_File_1b

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

Identification and functional validation of rare coding variants in genes linked to monogenic obesity.

Köroğlu Ç et al.

Obesity (silver Spring, Md.), 2024

Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.

Yang LK et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021

Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US.

Kim HI et al.

American Journal of Human Genetics, 2020

Pharmacological chaperones for the misfolded melanocortin-4 receptor associated with human obesity.

Huang H et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017

Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency.

Collet TH et al.

Molecular Metabolism, 2017

29031731 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Brain-derived neurotrophic factor in human subjects with function-altering melanocortin-4 receptor variants.

Hohenadel MG et al.

International Journal of Obesity (2005), 2014

Defect in MAPK signaling as a cause for monogenic obesity caused by inactivating mutations in the melanocortin-4 receptor gene.

He S et al.

International Journal of Biological Sciences, 2014

Greater impact of melanocortin-4 receptor deficiency on rates of growth and risk of type 2 diabetes during childhood compared with adulthood in Pima Indians.

Thearle MS et al.

Diabetes, 2012

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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."