Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.A64T
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MC1R

NM_002386.4:p.A64T

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

Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients.

Vergani E et al.

Genes, 2021

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

MC1R variants and associations with pigmentation characteristics and genetic ancestry in a Hispanic, predominately Puerto Rican, population.

Smit AK et al.

Scientific Reports, 2020

Clinical characteristics of patients with cutaneous melanoma according to variants in the melanocortin 1 receptor gene.

Peña-Vilabelda MM et al.

Actas Dermo-sifiliograficas, 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

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

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

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

Scherer D et al.

International Journal of Cancer, 2009

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

Kanetsky PA et al.

Cancer Research, 2006

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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."