Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.L99I
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MC1R

NM_002386.4:p.L99I

Associated Papers

TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma.

Jensen MR et al.

Hgg Advances, 2023

37646013 (PubMed )
Supplement: mmc1.pdf

Characterization of melanoma susceptibility genes in high-risk patients from Central Italy.

Pellegrini C et al.

Melanoma Research, 2017

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

Savage SA et al.

Bmc Genetics, 2008

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."