Varaico: Literature-Extracted Genetic Variants

Gene:LEPR
Variant:p.K204R
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LEPR

NM_002303.6:p.K204R

Associated Papers

Monoallelic pathogenic variants in LEPR do not cause obesity.

Delplanque J et al.

American Journal of Human Genetics, 2024

Medical semiology of patients with monogenic obesity: A systematic review.

Renard E et al.

Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2024

38956946 (PubMed )
Supplement: supplement_1.pdf

Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Machnicki MM et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants

Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.

Ayers KL et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

29726959 (PubMed )
Supplement: jc.2018-00258.st1.xlsx › Supp_Table3A

A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity.

Philippe J et al.

International Journal of Obesity (2005), 2015

Variants in the LEPR gene are nominally associated with higher BMI and lower 24-h energy expenditure in Pima Indians.

Traurig MT et al.

Obesity (silver Spring, Md.), 2012

A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.

Watanabe I et al.

Clinical Pharmacology and Therapeutics, 2003

Linkages and associations between the leptin receptor (LEPR) gene and human body composition in the Québec Family Study.

Chagnon YC et al.

International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity, 1999

Transmission disequilibrium and sequence variants at the leptin receptor gene in extremely obese German children and adolescents.

Roth H et al.

Human Genetics, 1998

Amino acid variants in the human leptin receptor: lack of association to juvenile onset obesity.

Echwald SM et al.

Biochemical and Biophysical Research Communications, 1997

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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."