Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.G104S
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MC1R

NM_002386.4:p.G104S

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

Molecular characterization of coat color gene in Sahiwal versus Karan Fries bovine.

Goud TS et al.

Journal, Genetic Engineering & Biotechnology, 2021

Pharmacological characterization of three chicken melanocortin-3 receptor mutants.

Zhang HJ et al.

Domestic Animal Endocrinology, 2021

Identification and sequence characterization of melanocortin 1 receptor gene (MC1R) in Bos indicus versus (Bos taurus X Bos indicus).

Goud TS et al.

Animal Biotechnology, 2020

Mc1r gene in Astroblepus pholeter and Astyanax mexicanus: Convergent regressive evolution of pigmentation across cavefish species.

Espinasa L et al.

Developmental Biology, 2018

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

Functional status and relationships of melanocortin 1 receptor signaling to the cAMP and extracellular signal-regulated protein kinases 1 and 2 pathways in human melanoma cells.

Herraiz C et al.

The International Journal of Biochemistry & Cell Biology, 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

Nucleotide diversity of the melanocortin 1 receptor gene (MC1R) in the gayal (Bos frontalis).

Xi D et al.

Molecular Biology Reports, 2012

The E92K melanocortin 1 receptor mutant induces cAMP production and arrestin recruitment but not ERK activity indicating biased constitutive signaling.

Benned-Jensen T et al.

Plos One, 2011

The role of MC1R gene in buffalo coat color.

Miao Y et al.

Science China. Life Sciences, 2010

Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy.

Casula M et al.

Bmc Cancer, 2009

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

Gerstenblith MR et al.

Human Mutation, 2007

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

Kanetsky PA et al.

Cancer Research, 2006

Re: Association between endothelin receptor B nonsynonymous variants and melanoma risk.

Thirumaran RK et al.

Journal of the National Cancer Institute, 2006

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

Tao YX

Pharmacology & Therapeutics, 2006

MC1R germline variants confer risk for BRAF-mutant melanoma.

Landi MT et al.

Science (new York, N.y.), 2006

16809487 (PubMed )
Supplement: landi_som.pdf

Contribution of melanocortin-1 receptor gene variants to sporadic cutaneous melanoma risk in a population in central Italy: a case-control study.

Fargnoli MC et al.

Melanoma Research, 2006

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

MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population.

Landi MT et al.

Journal of the National Cancer Institute, 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."