Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.L64*
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MC4R

NM_005912.3:p.L64*

Associated Papers

How genetic errors in GPCRs affect their function: Possible therapeutic strategies.

Stoy H et al.

Genes & Diseases, 2015

26229975 (PubMed )
Supplement: mmc1.docx

Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.

Tao YX

Pharmacology & Therapeutics, 2006

Gene polymorphisms and their effects in the melanocortin system.

Carroll L et al.

Peptides, 2005

Molecular mechanisms of the neural melanocortin receptor dysfunction in severe early onset obesity.

Tao YX

Molecular and Cellular Endocrinology, 2005

Functional characterization of melanocortin-4 receptor mutations associated with childhood obesity.

Tao YX et al.

Endocrinology, 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."