Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.R223W
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MC1R

NM_002386.4:p.R223W

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

Prevalence and spectrum of cancer predisposition germline mutations in young patients with the common late-onset cancers.

Hao S et al.

Cancer Medicine, 2023

37610374 (PubMed )
Supplement: CAM4-12-18394-s002.xlsx › Germline_variants

Identification of two new recessive MC1R alleles in red-coloured Evolèner cattle and other breeds.

Hauser M et al.

Animal Genetics, 2022

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

Landscape of somatic mutations in different subtypes of advanced breast cancer with circulating tumor DNA analysis.

Yi Z et al.

Scientific Reports, 2017

28729728 (PubMed )
Supplement: 41598_2017_6327_MOESM1_ESM.pdf

Acquired melanocytic naevus phenotypes and MC1R genotypes in Han Chinese: a cross-sectional study.

Li X et al.

Peerj, 2017

Germline MC1R status influences somatic mutation burden in melanoma.

Robles-Espinoza CD et al.

Nature Communications, 2016

27403562 (PubMed )
Supplement: ncomms12064-s1.pdf

MC1R variants in Chinese Han patients with sporadic Parkinson's disease.

Shi CH et al.

Neurobiology of Aging, 2016

The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.

Tell-Marti G et al.

Annals of Neurology, 2015

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

Hu HH et al.

Biomed Research International, 2014

Variants in melanocortin 1 receptor gene contribute to risk of melanoma--a direct sequencing analysis in a Texas population.

Guan X et al.

Pigment Cell & Melanoma Research, 2013

Relationship between germline MC1R variants and BRAF-mutant melanoma in a North Carolina population-based study.

Thomas NE et al.

The Journal of Investigative Dermatology, 2010

Evolution and phylogenetic utility of the melanocortin-1 receptor gene (MC1R) in Cetartiodactyla.

Ayoub NA et al.

Molecular Phylogenetics and Evolution, 2009

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

Kanetsky PA et al.

Cancer Research, 2006

The coding sequence of the ASIP gene is identical in nine wild-type coloured cattle breeds.

Royo LJ et al.

Journal of Animal Breeding and Genetics = Zeitschrift Fur Tierzuchtung Und Zuchtungsbiologie, 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."