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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MC4R

Variant:p.N294H

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MC4R

NM_005912.3:p.N294H

hg38:chr18:60371470 T>G

Associated Papers

High-resolution deep mutational scanning of the melanocortin-4 receptor enables target characterization for drug discovery.

Howard CJ et al.

Elife, 2025

40202051 (PubMed )

Supplement: elife-104725-supp1.xlsx › Supplementary_File_1b

Monogenic disorders of obesity and body fat distribution.

Chen D et al.

Journal of Lipid Research, 1999

10508193 (PubMed )

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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."