Varaico: Literature-Extracted Genetic Variants

Gene:POMC
Variant:p.D85E
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POMC

NM_000939.4:p.D85E

Associated Papers

Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity.

Faccioli N et al.

Obesity (silver Spring, Md.), 2026

41451896 (PubMed )
Supplement: OBY-34-499-s001.xlsx › Variant_details

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

RNAsnp: efficient detection of local RNA secondary structure changes induced by SNPs.

Sabarinathan R et al.

Human Mutation, 2013

23315997 (PubMed )
Supplement: humu0034-0546-SD1.pdf
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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."