Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.V156L
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MC1R

NM_002386.4:p.V156L

Associated Papers

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

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

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

Germline MC1R status influences somatic mutation burden in melanoma.

Robles-Espinoza CD et al.

Nature Communications, 2016

27403562 (PubMed )
Supplement: ncomms12064-s1.pdf

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

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

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

Germline variation of the melanocortin-1 receptor does not explain shared risk for melanoma and thyroid cancer.

Bauer J et al.

Experimental Dermatology, 2009

Variants of the melanocortin 1 receptor gene (MC1R) and P gene as indicators of the population origin of an individual.

Masui S et al.

International Journal of Legal Medicine, 2009

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

Kanetsky PA et al.

Cancer Research, 2006

Melanocortin-1 receptor structure and functional regulation.

García-Borrón JC et al.

Pigment Cell Research, 2005

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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."