Varaico: Literature-Extracted Genetic Variants

Gene:POMC
Variant:p.D126Y
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POMC

NM_000939.4:p.D126Y

Associated Papers

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

Computational analysis of missense variants of human MC4R and childhood obesity.

Douiyeh I et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2023

Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.

Shah BP et al.

Expert Review of Endocrinology & Metabolism, 2023

36864747 (PubMed )
Supplement: supplement_1.zip › supple_PPL › PPL_Variant_Supp3-POMC-OR.xlsx › Sheet1

Molecular Analysis and Conformational Dynamics of Human MC4R Disease-Causing Mutations.

Fatima MT et al.

Molecules (basel, Switzerland), 2022

The neuroendocrine circuitry controlled by POMC, MSH, and AGRP.

Biebermann H et al.

Handbook of Experimental Pharmacology, 2012

Functional studies on twenty novel naturally occurring melanocortin-4 receptor mutations.

Wang ZQ et al.

Biochimica Et Biophysica Acta, 2011

Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.

Stutzmann F et al.

Diabetes, 2008

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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."