Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.F179_I180insFs
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MC1R

NM_002386.4:p.F179_I180insFs

Associated Papers

Journey through the spectacular landscape of melanocortin 1 receptor.

Upadhyay PR et al.

Pigment Cell & Melanoma Research, 2024

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_11

TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma.

Jensen MR et al.

Hgg Advances, 2023

Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Wang T et al.

Ebiomedicine, 2022

35665681 (PubMed )
Supplement: mmc26.xlsx › Sheet1

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 1-bp deletion in Mc1r in a Norway rat (Rattus norvegicus) from Sado Island, Japan gives rise to a yellowish color variant: an insight into mammalian MC1R variants.

Tsunoi T et al.

Genes & Genetic Systems, 2021

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Byrjalsen A et al.

Plos Genetics, 2020

33332384 (PubMed )
Supplement: pgen.1009231.s001.xlsx › VUS

Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.

Stolarova L et al.

Biomedicines, 2020

33050356 (PubMed )
Supplement: biomedicines-08-00404-s001.zip › Supplementary_Tables.xlsx › TabS3

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

MC1R variants and associations with pigmentation characteristics and genetic ancestry in a Hispanic, predominately Puerto Rican, population.

Smit AK et al.

Scientific Reports, 2020

Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.

Shahi RB et al.

Bmc Cancer, 2019

30947698 (PubMed )
Supplement: 12885_2019_5494_MOESM11_ESM.xlsx › Additional_file_11

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

MC1R, ASIP, TYR, and TYRP1 gene variants in a population-based series of multiple primary melanomas.

Helsing P et al.

Genes, Chromosomes & Cancer, 2012

Role of glutathione S-transferases in melanoma susceptibility: association with GSTP1 rs1695 polymorphism.

Ibarrola-Villava M et al.

The British Journal of Dermatology, 2012

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 variation and melanoma risk in the Swedish population in relation to clinical and pathological parameters.

Höiom V et al.

Pigment Cell & Melanoma Research, 2009

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

Pastorino L et al.

Pigment Cell & Melanoma Research, 2008

Red hair is the null phenotype of MC1R.

Beaumont KA et al.

Human Mutation, 2008

The Y152X MC1R gene mutation: occurrence in ethnically diverse Jewish malignant melanoma patients.

Galore G et al.

Melanoma Research, 2007

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

Kanetsky PA et al.

Cancer Research, 2006

[Genetic predisposition in cutaneous melanoma].

Avilés JA et al.

Actas Dermo-sifiliograficas, 2006

Gene polymorphisms and their effects in the melanocortin system.

Carroll L et al.

Peptides, 2005

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

Murthy KK et al.

Human Mutation, 2005

MC1R and the response of melanocytes to ultraviolet radiation.

Rouzaud F et al.

Mutation Research, 2005

Novel MC1R variants in Ligurian melanoma patients and controls.

Pastorino L et al.

Human Mutation, 2004

Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure.

Matichard E et al.

Journal of Medical Genetics, 2004

Skin colour and skin cancer - MC1R, the genetic link.

Sturm RA

Melanoma Research, 2002

Agouti: from mouse to man, from skin to fat.

Voisey J et al.

Pigment Cell Research, 2002

Thr40 and Met122 are new partial loss-of-function natural mutations of the human melanocortin 1 receptor.

Jiménez-Cervantes C et al.

Febs Letters, 2001

The relation between melanocortin 1 receptor genotype and experimentally assessed ultraviolet radiation sensitivity.

Flanagan N et al.

The Journal of Investigative Dermatology, 2001

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

A polymorphism study of the human Agouti gene and its association with MC1R.

Voisey J et al.

Pigment Cell Research, 2001

Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation.

Flanagan N et al.

Human Molecular Genetics, 2000

Human pigmentation genetics: the difference is only skin deep.

Sturm RA et al.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 1998

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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."