Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.L106P
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MC1R

NM_002386.4:p.L106P

Associated Papers

Defect in MAPK signaling as a cause for monogenic obesity caused by inactivating mutations in the melanocortin-4 receptor gene.

He S et al.

International Journal of Biological Sciences, 2014

Engineering the melanocortin-4 receptor to control constitutive and ligand-mediated G(S) signaling in vivo.

Srinivasan S et al.

Plos One, 2007

[Melanocortin-4 receptor gene mutations associated with obesity].

Kobayashi H

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006

Obesity-associated mutations in the human melanocortin-4 receptor gene.

MacKenzie RG

Peptides, 2006

Gene polymorphisms and their effects in the melanocortin system.

Carroll L et al.

Peptides, 2005

Study on SNP of melanocyte stimulating hormone receptor gene in several Chinese indigenous sheep breeds using DHPLC.

Li XL et al.

Yi Chuan = Hereditas, 2004

Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms.

Yeo GS et al.

Human Molecular Genetics, 2003

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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."