Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.A218T
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MC1R

NM_002386.4:p.A218T

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

A Randomized Trial of Precision Prevention Materials to Improve Primary and Secondary Melanoma Prevention Activities among Individuals with Limited Melanoma Risk Phenotypes.

Lacson JCA et al.

Cancers, 2021

34201795 (PubMed )
Supplement: cancers-13-03143-s001.zip › cancers-1160613-supplementary.xlsx › Supplemental_Table_1

The repertoire of family A-peptide GPCRs in archaic hominins.

Mata X et al.

Peptides, 2019

Copal, a new MC1R allele in the domestic cat.

Abitbol M et al.

Animal Genetics, 2019

MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort.

Pellegrini C et al.

The Lancet. Child & Adolescent Health, 2019

Allelic variation of melanocortin-1 receptor locus in Saudi indigenous sheep exhibiting different color coats.

Mahmoud AH et al.

Asian-australasian Journal of Animal Sciences, 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

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

MC1R genotypes and risk of melanoma before age 40 years: a population-based case-control-family study.

Cust AE et al.

International Journal of Cancer, 2012

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

Pigmentation in Black-boned sheep (Ovis aries): association with polymorphism of the MC1R gene.

Deng WD et al.

Molecular Biology Reports, 2009

Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.

Peric B et al.

Bmc Medical Genetics, 2008

MC1R variants associated susceptibility to basal cell carcinoma of skin: interaction with host factors and XRCC3 polymorphism.

Scherer D et al.

International Journal of Cancer, 2008

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

Gerstenblith MR et al.

Human Mutation, 2007

Determination of phenotype associated SNPs in the MC1R gene.

Branicki W et al.

Journal of Forensic Sciences, 2007

High prevalence of germline CDKN2A mutations in Slovenian cutaneous malignant melanoma families.

Hocevar M et al.

Croatian Medical Journal, 2006

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

Kanetsky PA et al.

Cancer Research, 2006

MC1R germline variants confer risk for BRAF-mutant melanoma.

Landi MT et al.

Science (new York, N.y.), 2006

16809487 (PubMed )
Supplement: landi_som.pdf

MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population.

Landi MT et al.

Journal of the National Cancer Institute, 2005

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