Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.G89R
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MC1R

NM_002386.4:p.G89R

Associated Papers

Investigation of the MC1R Gene Sequence Variation Using Oxford Nanopore Sequencing.

Branicki W et al.

Electrophoresis, 2025

Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients.

Soares de Sá BC et al.

International Journal of Molecular Sciences, 2023

MC1R signaling through the cAMP-CREB/ATF-1 and ERK-NFκB pathways accelerates G1/S transition promoting breast cancer progression.

Chelakkot VS et al.

Npj Precision Oncology, 2023

37679505 (PubMed )
Supplement: 41698_2023_437_MOESM2_ESM.pdf

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

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

Germline MC1R status influences somatic mutation burden in melanoma.

Robles-Espinoza CD et al.

Nature Communications, 2016

Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population.

Shahzad M et al.

Pigment Cell & Melanoma Research, 2015

Modeling MC1R rare variants: a structural evaluation of variants detected in a Mediterranean case-control study.

Ibarrola-Villava M et al.

The Journal of Investigative Dermatology, 2014

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

Simultaneous purifying selection on the ancestral MC1R allele and positive selection on the melanoma-risk allele V60L in south Europeans.

Martínez-Cadenas C et al.

Molecular Biology and Evolution, 2013

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

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

Scherer D et al.

International Journal of Cancer, 2009

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

Variations of the melanocortin-1 receptor and the glutathione-S transferase T1 and M1 genes in cutaneous malignant melanoma.

Mössner R et al.

Archives of Dermatological Research, 2007

The relation between melanocortin 1 receptor (MC1R) variation and the generation of phenotypic diversity in the cutaneous response to ultraviolet radiation.

Wong TH et al.

Peptides, 2005

Gene polymorphisms and their effects in the melanocortin system.

Carroll L et al.

Peptides, 2005

Phenotypic expression of melanocortin-1 receptor mutations in Black Jamaicans.

McKenzie CA et al.

The Journal of Investigative Dermatology, 2003

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

Széll M et al.

Photochemistry and Photobiology, 0

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