Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.T314T
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MC1R

NM_002386.4:p.T314T

Associated Papers

Phenotypic and Genetic Features that Differ Between Hereditary and Sporadic Melanoma: Results of a Preliminary Study from a Single Center from Turkey.

Cakir A et al.

Dermatology Practical & Conceptual, 2023

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

Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Ueda A et al.

Plos One, 2022

35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full

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

The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.

Tell-Marti G et al.

Molecular Neurobiology, 2017

CDKN2A and MC1R variants found in Cypriot patients diagnosed with cutaneous melanoma.

Koulermou G et al.

Journal of Genetics, 2017

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

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

Hu HH et al.

Biomed Research International, 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

Melanoma risk associated with MC1R gene variants in Latvia and the functional analysis of rare variants.

Ozola A et al.

Cancer Genetics, 2013

A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family.

Yang YJ et al.

Biomed Research International, 2013

Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese.

Yamaguchi K et al.

Journal of Human Genetics, 2012

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

Molecular characterization of human cutaneous melanoma-derived cell lines.

Ogbah Z et al.

Anticancer Research, 2012

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

Does MC1R genotype convey information about melanoma risk beyond risk phenotypes?

Kanetsky PA et al.

Cancer, 2010

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

Scherer D et al.

International Journal of Cancer, 2009

MC1R variant alleles and malignant melanoma risk in Israel.

Galore-Haskel G et al.

European Journal of Cancer (oxford, England : 1990), 2009

Determination of cis/trans phase of variations in the MC1R gene with allele-specific PCR and single base extension.

Mengel-From J et al.

Electrophoresis, 2008

Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.

Peric B et al.

Bmc Medical Genetics, 2008

Main pigmentary features and melanocortin 1 receptor (MC1R) gene polymorphisms in the population of the Canary Islands.

de-Misa RF et al.

International Journal of Dermatology, 2008

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

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

Determination of phenotype associated SNPs in the MC1R gene.

Branicki W et al.

Journal of Forensic Sciences, 2007

High prevalence of germline CDKN2A mutations in Slovenian cutaneous malignant melanoma families.

Hocevar M et al.

Croatian Medical Journal, 2006

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

Kanetsky PA et al.

Cancer Research, 2006

Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians.

Nakayama K et al.

Human Genetics, 2006

Characteristic MC1R polymorphism in the Japanese population.

Motokawa T et al.

Journal of Dermatological Science, 2006

Assessment of multiple displacement amplification for polymorphism discovery and haplotype determination at a highly polymorphic locus, MC1R.

Murthy KK et al.

Human Mutation, 2005

CDKN2A and MC1R mutations in patients with sporadic multiple primary melanoma.

Peris K et al.

The Journal of Investigative Dermatology, 2004

Assessment of polymorphic variants in the melanocortin-1 receptor gene with cutaneous pigmentation using an evolutionary approach.

Kanetsky PA et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2004

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

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

Melanocortin-1 receptor gene variants in four Chinese ethnic populations.

Peng S et al.

Cell Research, 2001

Gene admixture in the silk road region of China: evidence from mtDNA and melanocortin 1 receptor polymorphism.

Yao YG et al.

Genes & Genetic Systems, 2000

High polymorphism at the human melanocortin 1 receptor locus.

Rana BK et al.

Genetics, 1999

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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."