Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ13
Variant:p.I170V
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KCNJ13

NM_002242.4:p.I170V

Associated Papers

Deciphering deleterious missense variants in the MC4R gene in the pathogenesis of obesity.

El Fessikh M et al.

Endocrinologia, Diabetes Y Nutricion, 2025

Obesity-associated mutant melanocortin-4 receptors with normal Gαs coupling frequently exhibit other discoverable pharmacological and biochemical defects.

Gillyard T et al.

Journal of Neuroendocrinology, 2019

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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."