Varaico: Literature-Extracted Genetic Variants

Gene:POMC
Variant:p.P132A
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POMC

NM_000939.4:p.P132A

Associated Papers

Resolution of chronic idiopathic urticaria with setmelanotide in a patient with Bardet-Biedl Syndrome: A case report.

Haggerty K et al.

Obesity Pillars, 2025

Rare gene variants and weight loss at 10 years after sleeve gastrectomy and gastric bypass - a randomized clinical trial.

Loid P et al.

Surgery for Obesity and Related Diseases : Official Journal of the American Society for Bariatric Surgery, 2025

Molecular Genetic Architecture of Morbid Obesity in Russian Children.

Minniakhmetov IR et al.

Biomedicines, 2025

Variant reclassification over time decreases the level of diagnostic uncertainty in monogenic obesity: Experience from two centres.

Morandi A et al.

Pediatric Obesity, 2024

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

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc4.xlsx › Supplementary_Table_4

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

Obesity Characteristics Are Poor Predictors of Genetic Mutations Associated with Obesity.

Al-Humadi AW et al.

Journal of Clinical Medicine, 2023

37835041 (PubMed )
Supplement: jcm-12-06396-s001.zip › jcm-2584407-supplementary.pdf

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

The association of proopiomelanocortin polymorphisms with the risk of major depressive disorder and the response to antidepressants via interactions with stressful life events.

Chang HS et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2015

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

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

Lee YS et al.

Cell Metabolism, 2006

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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."