Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.I287M
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MC1R

NM_002386.4:p.I287M

Associated Papers

Genetic diversity of the melanocortin-1 receptor in an admixed population of Rio de Janeiro: Structural and functional impacts of Cys35Tyr variant.

Neitzke-Montinelli V et al.

Plos One, 2022

35452484 (PubMed )
Supplement: pone.0267286.s002.xlsx › S2_Table_

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

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20

The Contribution of Neanderthals to Phenotypic Variation in Modern Humans.

Dannemann M et al.

American Journal of Human Genetics, 2017

28985494 (PubMed )
Supplement: mmc1.pdf

A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.

Hu HH et al.

Biomed Research International, 2014

Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population.

Puig-Butillé JA et al.

The British Journal of Dermatology, 2013

Genetic variations of patients with familial or multiple melanoma in Southern Brazil.

Grazziotin TC et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2013

Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese.

Yamaguchi K et al.

Journal of Human Genetics, 2012

Melanocortin receptor 1 variants and melanoma risk: a study of 2 European populations.

Scherer D et al.

International Journal of Cancer, 2009

MC1R variant alleles and malignant melanoma risk in Israel.

Galore-Haskel G et al.

European Journal of Cancer (oxford, England : 1990), 2009

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

Gerstenblith MR et al.

Human Mutation, 2007

Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma.

Kanetsky PA et al.

Cancer Research, 2006

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

The relation between melanocortin 1 receptor (MC1R) variation and the generation of phenotypic diversity in the cutaneous response to ultraviolet radiation.

Wong TH et al.

Peptides, 2005

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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."