Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.V174I
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MC1R

NM_002386.4:p.V174I

Associated Papers

Polygenic Risk Score Analysis of 37 SNPs Associated with Melanoma Risk in Colombian Population.

Tovar-Parra D et al.

International Journal of Molecular Sciences, 2025

40429816 (PubMed )
Supplement: ijms-26-04674-s001.zip › ijms-3524919-supplementary.xlsx › Table_S2

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 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 Common Variant in the MC1R Gene (p.V92M) is associated with Alzheimer's Disease Risk.

Tell-Marti G et al.

Journal of Alzheimer's Disease : Jad, 2017

MC1R is a potent regulator of PTEN after UV exposure in melanocytes.

Cao J et al.

Molecular Cell, 2013

ASSESSMENT OF MC1R AND α-MSH GENE SEQUENCES IN IRANIAN VITILIGO PATIENTS.

Eskandani M et al.

Indian Journal of Dermatology, 2010

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

Savage SA et al.

Bmc Genetics, 2008

Comprehensive evaluation of allele frequency differences of MC1R variants across populations.

Gerstenblith MR et al.

Human Mutation, 2007

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."