Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.S141C
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LEP

NM_000230.3:p.S141C

Associated Papers

Structural and functional characterization of the Pro64Ser leptin mutant: Implications for congenital leptin deficiency.

Ngo BQ et al.

Biophysical Journal, 2025

Classification of Congenital Leptin Deficiency.

von Schnurbein J et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Novel compound heterozygous mutations in LEP responsible for obesity in a Chinese family.

Li H et al.

Molecular Genetics and Metabolism Reports, 2024

A quantitative pipeline to assess secretion of human leptin coding variants reveals mechanisms underlying leptin deficiencies.

Baird HJM et al.

The Journal of Biological Chemistry, 2024

Leptin Signaling in Obesity and Colorectal Cancer.

Socol CT et al.

International Journal of Molecular Sciences, 2022

Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database.

Rajcsanyi LS et al.

Plos One, 2022

36121795 (PubMed )
Supplement: pone.0266642.s003.pdf

Role of Leptin Deficiency, Inefficiency, and Leptin Receptors in Obesity.

Wasim M et al.

Biochemical Genetics, 2016

Biologically inactive leptin and early-onset extreme obesity.

Wabitsch M et al.

The New England Journal of Medicine, 2015

Monogenic forms of childhood obesity due to mutations in the leptin gene.

Funcke JB et al.

Molecular and Cellular Pediatrics, 2014

A novel mutation in the leptin gene (W121X) in an Egyptian family.

Mazen I et al.

Molecular Genetics and Metabolism Reports, 2014

[A new mutation c.422C>G (p.S141C) in homo- and heterozygous forms of the human leptin gene].

Chekhranova MK et al.

Bioorganicheskaia Khimiia, 0

[Genetic variations in energy balance regulation].

Pankov IuA

Biomeditsinskaia Khimiia, 0

[Recombinant DNA in the study of diabetes mellitus].

Pankov IuA

Molekuliarnaia Biologiia, 0

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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."