Varaico: Literature-Extracted Genetic Variants

Gene:LIPE
Variant:p.Y100H
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LIPE

NM_005357.4:p.Y100H

Associated Papers

A missense variant Arg611Cys in LIPE which encodes hormone sensitive lipase decreases lipolysis and increases risk of type 2 diabetes in American Indians.

Muller YL et al.

Diabetes/metabolism Research and Reviews, 2022

Identification of potentially damaging amino acid substitutions leading to human male infertility.

Kuzmin A et al.

Biology of Reproduction, 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."