Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.S47I
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MC1R

NM_002386.4:p.S47I

Associated Papers

Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Moore BS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

34326492 (PubMed )
Supplement: NIHMS1754145-supplement-Supplemental_Table_2.xlsx › Sheet1

Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.

Savage SA et al.

Bmc Genetics, 2008

Comprehensive evaluation of allele frequency differences of MC1R variants across populations.

Gerstenblith MR et al.

Human Mutation, 2007

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

Tao YX

Pharmacology & Therapeutics, 2006

Melanocortin-1 receptor structure and functional regulation.

García-Borrón JC et al.

Pigment Cell Research, 2005

Worldwide polymorphism at the MC1R locus and normal pigmentation variation in humans.

Makova K et al.

Peptides, 2005

DNA polymorphism and selection at the melanocortin-1 receptor gene in normally pigmented southern African individuals.

John PR et al.

Annals of the New York Academy of Sciences, 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."