Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.V60L
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MC1R

NM_002386.4:p.V60L

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

Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma.

Johansson PA et al.

Pigment Cell & Melanoma Research, 2026

41673532 (PubMed )
Supplement: PCMR-39-0-s001.xlsx › TableS2

MC1R loss-of-function is associated with accelerated Parkinson's disease motor decline.

Schumacher JG et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Cutaneous Melanoma Risk Assessment among Individuals with a High-Risk Nevus Phenotype.

Polo-Silveira L et al.

The Journal of Investigative Dermatology, 2025

Assessing MC1R Variants in Lentigo Maligna Melanoma within the Utah Population.

Jiang A et al.

Cancer Research Communications, 2025

Investigation of the MC1R Gene Sequence Variation Using Oxford Nanopore Sequencing.

Branicki W et al.

Electrophoresis, 2025

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

An overview of benefits and risks of chronic melanocortin-1 receptor activation.

Böhm M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025

Melanocortin 1 receptor mediates melanin production by interacting with the BBSome in primary cilia.

Tian X et al.

Plos Biology, 2024

Journey through the spectacular landscape of melanocortin 1 receptor.

Upadhyay PR et al.

Pigment Cell & Melanoma Research, 2024

Dark Morph of the Oriental Honey-Buzzard (Pernis ptilorhynchus orientalis) is Attributable to Specific MC1R Haplotypes.

Ono H et al.

Zoological Science, 2024

Familial Melanoma Phenotype With Xeroderma Pigmentosum Group C (XP-C) Genotype - The Putative Role of MC1R Polymorphism as Modifier.

Leidenz FAB et al.

Dermatology Practical & Conceptual, 2024

MITF E318K: A rare homozygous case with multiple primary melanoma.

Wallingford CK et al.

Pigment Cell & Melanoma Research, 2024

Unveiling the genetic landscape of hereditary melanoma: From susceptibility to surveillance.

Zheng C et al.

Cancer Treatment and Research Communications, 2024

High- and intermediate-risk susceptibility variants in melanoma families from the Mediterranean area: A multicentre cohort from the MelaNostrum Consortium.

Pellegrini C et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023

Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients.

Soares de Sá BC et al.

International Journal of Molecular Sciences, 2023

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

Jensen MR et al.

Hgg Advances, 2023

UV-radiation and MC1R germline mutations are risk factors for the development of conventional and spitzoid melanomas in children and adolescents.

Liebmann A et al.

Ebiomedicine, 2023

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

The MC1R r allele does not increase melanoma risk in MITF E318K carriers.

Wallingford CK et al.

The British Journal of Dermatology, 2023

Melanocortin 1 receptor variants and their association with phenotypic characteristics and sporadic multiple primary melanomas in a cohort of 402 Spanish subjects.

Vírseda-González D et al.

Experimental Dermatology, 2023

Mechanisms and implications in gene polymorphism mediated diverse reponses to sedatives, analgesics and muscle relaxants.

Sun Y et al.

Korean Journal of Anesthesiology, 2023

Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Álvarez-Prado ÁF et al.

Cell Reports. Medicine, 2023

36652909 (PubMed )
Supplement: mmc8.xlsx › BrM167

Amelanotic/hypopigmented melanoma in a sibship with oculocutaneous albinism.

Maas EJ et al.

The Journal of Dermatology, 2022

Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Farshidfar F et al.

Nature Communications, 2022

35197475 (PubMed )
Supplement: 41467_2022_28566_MOESM1_ESM.pdf

MC1R Functions, Expression, and Implications for Targeted Therapy.

Guida S et al.

The Journal of Investigative Dermatology, 2022

Melanoma in children and adolescents: analysis of susceptibility genes in 123 Italian patients.

Pellegrini C et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022

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

Interest and Utility of MC1R Testing for Melanoma Risk in Dermatology Patients with a History of Nonmelanoma Skin Cancer.

Hay JL et al.

Journal of Skin Cancer, 2022

PARP1 Inhibitor and Trabectedin Combination Does Not Increase Tumor Mutational Burden in Advanced Sarcomas-A Preclinical and Translational Study.

Pignochino Y et al.

Cancers, 2021

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

A large Canadian cohort provides insights into the genetic architecture of human hair colour.

Lona-Durazo F et al.

Communications Biology, 2021

34737440 (PubMed )
Supplement: 42003_2021_2764_MOESM2_ESM.pdf

Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients.

Vergani E et al.

Genes, 2021

Familial Melanoma and Susceptibility Genes: A Review of the Most Common Clinical and Dermoscopic Phenotypic Aspect, Associated Malignancies and Practical Tips for Management.

Zocchi L et al.

Journal of Clinical Medicine, 2021

Behind the Scene: Exploiting MC1R in Skin Cancer Risk and Prevention.

Manganelli M et al.

Genes, 2021

The α-melanocyte-stimulating hormone/melanocortin-1 receptor interaction: A driver of pleiotropic effects beyond pigmentation.

Herraiz C et al.

Pigment Cell & Melanoma Research, 2021

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
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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."