Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.A81P
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MC1R

NM_002386.4:p.A81P

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

Melanocortin-1 receptor (MC1R) genotypes do not correlate with size in two cohorts of medium-to-giant congenital melanocytic nevi.

Calbet-Llopart N et al.

Pigment Cell & Melanoma Research, 2020

The Contribution of Neanderthals to Phenotypic Variation in Modern Humans.

Dannemann M et al.

American Journal of Human Genetics, 2017

28985494 (PubMed )
Supplement: mmc1.pdf

A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.

Hu HH et al.

Biomed Research International, 2014

Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.

Savage SA et al.

Bmc Genetics, 2008

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

Kanetsky PA et al.

Cancer Research, 2006

Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.

Tao YX

Pharmacology & Therapeutics, 2006

Melanocortin-1 receptor structure and functional regulation.

García-Borrón JC et al.

Pigment Cell Research, 2005

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

Characterization of melanocortin-1 receptor gene variants in uveal melanoma patients.

Metzelaar-Blok JA et al.

Investigative Ophthalmology & Visual Science, 2001

Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color.

Kennedy C et al.

The Journal of Investigative Dermatology, 2001

Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair.

Bastiaens MT et al.

American Journal of Human Genetics, 2001

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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."