Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.Q233Q
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MC1R

NM_002386.4:p.Q233Q

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

The complementary effect of rs1042522 in TP53 and rs1805007 in MC1R is associated with an elevated risk of cutaneous melanoma in Latvian population.

Ozola A et al.

Oncology Letters, 2019

The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.

Tell-Marti G et al.

Molecular Neurobiology, 2017

A Common Variant in the MC1R Gene (p.V92M) is associated with Alzheimer's Disease Risk.

Tell-Marti G et al.

Journal of Alzheimer's Disease : Jad, 2017

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

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

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

Melanoma risk associated with MC1R gene variants in Latvia and the functional analysis of rare variants.

Ozola A et al.

Cancer Genetics, 2013

Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.

Demenais F et al.

Journal of the National Cancer Institute, 2010

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

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

Savage SA et al.

Bmc Genetics, 2008

Determination of phenotype associated SNPs in the MC1R gene.

Branicki W et al.

Journal of Forensic Sciences, 2007

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

Kanetsky PA et al.

Cancer Research, 2006

Assessment of polymorphic variants in the melanocortin-1 receptor gene with cutaneous pigmentation using an evolutionary approach.

Kanetsky PA et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2004

Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population.

Fargnoli MC et al.

Human Mutation, 2003

Characterization of melanocortin-1 receptor gene variants in uveal melanoma patients.

Metzelaar-Blok JA et al.

Investigative Ophthalmology & Visual Science, 2001

Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color.

Kennedy C et al.

The Journal of Investigative Dermatology, 2001

Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair.

Bastiaens MT et al.

American Journal of Human Genetics, 2001

The Arg160Trp allele of melanocortin-1 receptor gene might protect against vitiligo.

Széll M et al.

Photochemistry and Photobiology, 0

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