Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.R220S
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MC3R

NM_019888.3:p.R220S

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

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

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

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

Heterozygous Genetic Variants in Autosomal Recessive Genes of the Leptin-Melanocortin Signalling Pathway Are Associated With the Development of Childhood Obesity.

Šket R et al.

Frontiers in Endocrinology, 2022

35574020 (PubMed )
Supplement: DataSheet_1.pdf

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

Lam BYH et al.

Nature, 2021

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1883.659

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."