Varaico: Literature-Extracted Genetic Variants

Gene:POMC
Variant:p.R145L
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POMC

NM_000939.4:p.R145L

Associated Papers

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

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

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

MC1R variation and melanoma risk in the Swedish population in relation to clinical and pathological parameters.

Höiom V et al.

Pigment Cell & Melanoma Research, 2009

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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."