Varaico: Literature-Extracted Genetic Variants

Gene:POMC
Variant:p.Q102*
Back to variants list

POMC

NM_000939.4:p.Q102*

Associated Papers

Distribution of Variants and Identification of Novel Variants in Patients with Obesity Using Next-Generation Sequencing in Genes Associated with Obesity: A Single-Center Experience in Turkey.

Anlas O et al.

Molecular Syndromology, 2025

Real-life experience on efficacy and safety of setmelanotide treatment in prepubertal children.

Kahveci A et al.

European Journal of Endocrinology, 2025

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

Radiological and Genetic Evaluation in Hypotonic Infants.

Gur S et al.

Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2023

Natural History of Obesity Due to POMC, PCSK1, and LEPR Deficiency and the Impact of Setmelanotide.

Wabitsch M et al.

Journal of the Endocrine Society, 2022

Cardiac Phenotype and Tissue Sodium Content in Adolescents With Defects in the Melanocortin System.

Puder L 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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."