Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.S36T
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MC4R

NM_005912.3:p.S36T

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

Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort.

Wade KH et al.

Nature Medicine, 2021

Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.

Namjou B et al.

International Journal of Obesity (2005), 2021

Identification of a Rare and Potential Pathogenic MC4R Variant in a Brazilian Patient With Adulthood-Onset Severe Obesity.

Salum KCR et al.

Frontiers in Genetics, 2020

Identification of the MC4R start lost mutation in a morbidly obese Brazilian patient.

da Fonseca ACP et al.

Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2019

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

Eating Behavior, Low-Frequency Functional Mutations in the Melanocortin-4 Receptor (MC4R) Gene, and Outcomes of Bariatric Operations: A 6-Year Prospective Study.

Bonnefond A et al.

Diabetes Care, 2016

Allelic variants of the Melanocortin 4 receptor (MC4R) gene in a South African study group.

Logan M et al.

Molecular Genetics & Genomic Medicine, 2016

Increased constraints on MC4R during primate and human evolution.

Hughes DA et al.

Human Genetics, 2009

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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."