Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.V44I
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MC3R

NM_019888.3:p.V44I

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

The melanocortin receptor genes are linked to and associated with the risk of polycystic ovary syndrome in Italian families.

Wu R et al.

Journal of Ovarian Research, 2024

Sequencing methods, functional characterization, prevalence, and penetrance of rare coding mutations in panels of monogenic obesity genes from the leptin-melanocortin pathway: A systematic review.

Dosda S et al.

Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2024

38779716 (PubMed )
Supplement: supplement_1.pdf

Influence of polymorphisms in IRS1, IRS2, MC3R, and MC4R on metabolic and inflammatory status and food intake in Brazilian adults: An exploratory pilot study.

Fajardo CM et al.

Nutrition Research (new York, N.y.), 2023

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

Zheng Y et al.

Scientific Reports, 2023

Implication of Melanocortin Receptor Genes in the Familial Comorbidity of Type 2 Diabetes and Depression.

Amin M et al.

International Journal of Molecular Sciences, 2022

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

Lam BYH et al.

Nature, 2021

Association analysis of melanocortin 3 receptor polymorphisms with the risk of pulmonary tuberculosis.

Park BL et al.

Lung, 2014

Next-generation sequence analysis of genes associated with obesity and nonalcoholic fatty liver disease-related cirrhosis in extreme obesity.

Gerhard GS et al.

Human Heredity, 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."