Varaico: Literature-Extracted Genetic Variants

Gene:POMC
Variant:p.Y221C
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POMC

NM_000939.4:p.Y221C

Associated Papers

Effects of Rare Coding Variants in Severe Early-Onset Obesity Genes in the Population-Based UK Biobank Study.

Jia RY et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Exome sequencing reveals new insights into the germline landscape of inflammatory breast cancer among Tunisian patients.

Boujemaa M et al.

Journal of Translational Medicine, 2025

41088366 (PubMed )
Supplement: 12967_2025_7027_MOESM1_ESM.xlsx › S5

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

Type 2 Diabetes Remission in Patients with Heterozygous Variants in the Leptin-Melanocortin Pathway after Roux-en-Y Gastric Bypass: A Matched Case-Control Study.

Anazco D et al.

Obesity Surgery, 2023

Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.

Liu Y et al.

Molecular Cancer, 2023

37543594 (PubMed )
Supplement: 12943_2023_1828_MOESM2_ESM.xlsx › suppplementaryTable_1A

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_Supp4-POMC-MSH.xlsx › Sheet1

Implication of Heterozygous Variants in Genes of the Leptin-Melanocortin Pathway in Severe Obesity.

Courbage S et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.

Ayers KL et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

29726959 (PubMed )
Supplement: jc.2018-00258.sd1.pdf

Next-generation sequencing of the monogenic obesity genes LEP, LEPR, MC4R, PCSK1 and POMC in a Norwegian cohort of patients with morbid obesity and normal weight controls.

Nordang GBN et al.

Molecular Genetics and Metabolism, 2017

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

Biebermann H et al.

Handbook of Experimental Pharmacology, 2012

The role of leptin-melanocortin system and human weight regulation: lessons from experiments of nature.

Lee YS

Annals of the Academy of Medicine, Singapore, 2009

Mutational analysis of the pro-opiomelanocortin gene in French obese children led to the identification of a novel deleterious heterozygous mutation located in the alpha-melanocyte stimulating hormone domain.

Dubern B et al.

Pediatric Research, 2008

The role of melanocortin 3 receptor gene in childhood obesity.

Lee YS et al.

Diabetes, 2007

The molecular genetics of the melanocortin pathway and energy homeostasis.

Leibel RL

Cell Metabolism, 2006

A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance.

Lee YS et al.

Cell Metabolism, 2006

Investigating genetic variants in early-onset obesity through exome sequencing: A retrospective cohort study.

Liu D et al.

Obesity Research & Clinical Practice, 0

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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."