Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.F196L
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MC1R

NM_002386.4:p.F196L

Associated Papers

Dissecting the Impact of α-MSH-MC1R-cAMP Signaling on UVA-Induced Stress in Fibroblasts - Implications for Regulation of Cutaneous Photoaging.

Böhm M et al.

Aging and Disease, 2026

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

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

MC1R gene polymorphisms are associated with dysfunctional immune responses and wound infection after burn injury.

Carter DW et al.

The Journal of Surgical Research, 2018

Genetic analysis of MC1R variants in Chinese Han patients with sporadic Parkinson's disease.

He S et al.

Neuroscience Letters, 2016

Race and Melanocortin 1 Receptor Polymorphism R163Q Are Associated with Post-Burn Hypertrophic Scarring: A Prospective Cohort Study.

Sood RF et al.

The Journal of Investigative Dermatology, 2015

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

MC1R genotypes and risk of melanoma before age 40 years: a population-based case-control-family study.

Cust AE et al.

International Journal of Cancer, 2012

Selected melanocortin 1 receptor single-nucleotide polymorphisms differentially alter multiple signaling pathways.

Doyle JR et al.

The Journal of Pharmacology and Experimental Therapeutics, 2012

Sequence polymorphisms of MC1R gene and their association with depression and antidepressant response.

Wu GS et al.

Psychiatric Genetics, 2011

Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.

Demenais F et al.

Journal of the National Cancer Institute, 2010

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

CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma.

Pastorino L et al.

Pigment Cell & Melanoma Research, 2008

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

MC1R common variants, CDKN2A and their association with melanoma and breast cancer risk.

Debniak T et al.

International Journal of Cancer, 2006

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

Tao YX

Pharmacology & Therapeutics, 2006

Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations.

Savas S et al.

Human Genomics, 2006

Characteristic MC1R polymorphism in the Japanese population.

Motokawa T et al.

Journal of Dermatological Science, 2006

Melanocortin-1 receptor structure and functional regulation.

García-Borrón JC et al.

Pigment Cell Research, 2005

Worldwide polymorphism at the MC1R locus and normal pigmentation variation in humans.

Makova K et al.

Peptides, 2005

Melanocortin-1 receptor (MC1R) gene variants and dysplastic nevi modify penetrance of CDKN2A mutations in French melanoma-prone pedigrees.

Chaudru V et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005

DNA polymorphism and selection at the melanocortin-1 receptor gene in normally pigmented southern African individuals.

John PR et al.

Annals of the New York Academy of Sciences, 2003

Human melanocortin 1 receptor variants, receptor function and melanocyte response to UV radiation.

Scott MC et al.

Journal of Cell Science, 2002

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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."