Varaico: Literature-Extracted Genetic Variants

Gene:LEPR
Variant:p.T699M
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LEPR

NM_002303.6:p.T699M

Associated Papers

Pathogenic variants in the fibronectin type III domain of leptin receptor: Molecular dynamics simulation and structural analysis.

Kato T et al.

Journal of Molecular Graphics & Modelling, 2025

Comprehensive Molecular Characterization of Soft Tissue Sarcoma for Prediction of Pazopanib-Based Treatment Response.

Hong JY et al.

Cancer Research and Treatment, 2023

36164943 (PubMed )
Supplement: crt-2022-251-Supplementary-Table-2.xlsx › S3_Table

Implication of Heterozygous Variants in Genes of the Leptin-Melanocortin Pathway in Severe Obesity.

Courbage S et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Rare Pathogenic Variants in Mitochondrial and Inflammation-Associated Genes May Lead to Inflammatory Cardiomyopathy in Chagas Disease.

Ouarhache M et al.

Journal of Clinical Immunology, 2021

Computational and artificial neural network based study of functional SNPs of human LEPR protein associated with reproductive function.

Gandhi Muruganandhan S et al.

Journal of Cellular Biochemistry, 2019

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Gomes CC et al.

Nature Communications, 2018

30385747 (PubMed )
Supplement: 41467_2018_6690_MOESM6_ESM.xlsx › Supplementary_Data_3

Association between polymorphisms in leptin, leptin receptor, and β-adrenergic receptor genes and bone mineral density in postmenopausal Korean women.

Lee HJ et al.

Menopause (new York, N.y.), 2014

A mutation in the leptin receptor is associated with Entamoeba histolytica infection in children.

Duggal P et al.

The Journal of Clinical Investigation, 2011

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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."