Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.F45S
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MC3R

NM_019888.3:p.F45S

Associated Papers

Cross-species studies implicate the melanocortin 3 receptor more strongly in the control of pubertal development than energy balance.

Duckett K et al.

Molecular Metabolism, 2026

Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.

Bauer R et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40832409 (PubMed )
Supplement: media-1.xlsx › S4_-_Variants_Identified

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

Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.

Duckett K et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Evaluation of the MC3R gene pertaining to body weight and height regulation and puberty development.

Zheng Y et al.

Scientific Reports, 2023

MC3R links nutritional state to childhood growth and the timing of puberty.

Lam BYH et al.

Nature, 2021

In silico approach to identify non-synonymous SNPs in human obesity related gene, MC3R (melanocortin-3-receptor).

Singh RK et al.

Computational Biology and Chemistry, 2017

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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."