Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.N123S
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MC4R

NM_005912.3:p.N123S

Associated Papers

Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk.

Zorn S et al.

Nature Medicine, 2025

41102563 (PubMed )
Supplement: 41591_2025_3976_MOESM2_ESM.xlsx › Table_S4

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

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

Heterozygous rare genetic variants in non-syndromic early-onset obesity.

Serra-Juhé C et al.

International Journal of Obesity (2005), 2020

30926952 (PubMed )
Supplement: 41366_2019_357_MOESM6_ESM.xlsx › Suppl_2_Controls_RSVs

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

The missense variation landscape of FTO, MC4R, and TMEM18 in obese children of African Ancestry.

Deliard S et al.

Obesity (silver Spring, Md.), 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."