Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.L86_V87insA
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MC1R

NM_002386.4:p.L86_V87insA

Associated Papers

Journey through the spectacular landscape of melanocortin 1 receptor.

Upadhyay PR et al.

Pigment Cell & Melanoma Research, 2024

A 1-bp deletion in Mc1r in a Norway rat (Rattus norvegicus) from Sado Island, Japan gives rise to a yellowish color variant: an insight into mammalian MC1R variants.

Tsunoi T et al.

Genes & Genetic Systems, 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

Contributions by MC1R Variants to Melanoma Risk in Males and Females.

Wendt J et al.

Jama Dermatology, 2018

Human Determinants and the Role of Melanocortin-1 Receptor Variants in Melanoma Risk Independent of UV Radiation Exposure.

Wendt J et al.

Jama Dermatology, 2016

Dermoscopic features of cutaneous melanoma are associated with clinical characteristics of patients and tumours and with MC1R genotype.

Fargnoli MC et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2014

Actinic damage on the back is significantly determined by MC1R variants and previous sun exposure compared with other body sites in a multivariate analysis.

Wendt J et al.

The British Journal of Dermatology, 2014

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

Host phenotype characteristics and MC1R in relation to early-onset basal cell carcinoma.

Ferrucci LM et al.

The Journal of Investigative Dermatology, 2012

22158557 (PubMed )
Supplement: NIHMS335184-supplement-supplement_1.pdf

Does MC1R genotype convey information about melanoma risk beyond risk phenotypes?

Kanetsky PA et al.

Cancer, 2010

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

MC1R variation and melanoma risk in the Swedish population in relation to clinical and pathological parameters.

Höiom V et al.

Pigment Cell & Melanoma Research, 2009

Red hair is the null phenotype of MC1R.

Beaumont KA et al.

Human Mutation, 2008

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

Kanetsky PA et al.

Cancer Research, 2006

Contribution of melanocortin-1 receptor gene variants to sporadic cutaneous melanoma risk in a population in central Italy: a case-control study.

Fargnoli MC et al.

Melanoma Research, 2006

Assessment of multiple displacement amplification for polymorphism discovery and haplotype determination at a highly polymorphic locus, MC1R.

Murthy KK et al.

Human Mutation, 2005

Novel MC1R variants in Ligurian melanoma patients and controls.

Pastorino L et al.

Human Mutation, 2004

CDKN2A and MC1R mutations in patients with sporadic multiple primary melanoma.

Peris K et al.

The Journal of Investigative Dermatology, 2004

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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."