Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.D84E
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MC1R

NM_002386.4:p.D84E

Associated Papers

Genetic architecture of multiple primary cutaneous melanoma in the absence of high-penetrance susceptibility genes.

Johansson PA et al.

The Journal of Investigative Dermatology, 2026

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

Germline MC1R Variant Status and Efficacy of Immune Checkpoint Inhibitors in Patients With Advanced Melanoma.

Yang M et al.

Pigment Cell & Melanoma Research, 2025

40926353 (PubMed )
Supplement: PCMR-38-0-s001.docx

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

Jiang A et al.

Cancer Research Communications, 2025

Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.

Fiasconaro CA et al.

Diseases (basel, Switzerland), 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

Molecular Basis of MC1R Activation: Mutation-Induced Alterations in Structural Dynamics.

Cavatão FG et al.

Proteins, 2024

Canine coat color E locus updates: Identification of a new MC1R variant causing 'sable' coat color in English Cocker Spaniels and a proposed update to the E locus dominance hierarchy.

Honkanen L et al.

Animal Genetics, 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

MC1R signaling through the cAMP-CREB/ATF-1 and ERK-NFκB pathways accelerates G1/S transition promoting breast cancer progression.

Chelakkot VS et al.

Npj Precision Oncology, 2023

37679505 (PubMed )
Supplement: 41698_2023_437_MOESM2_ESM.pdf

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

Wallingford CK et al.

The British Journal of Dermatology, 2023

Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity.

Kempf E et al.

Nature Metabolism, 2022

36536132 (PubMed )
Supplement: 42255_2022_703_MOESM1_ESM.pdf

Computational and Experimental Analysis of Genetic Variants.

Prokop JW et al.

Comprehensive Physiology, 2022

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

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

Genetic and Genomic Pathways of Melanoma Development, Invasion and Metastasis.

Motwani J et al.

Genes, 2021

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

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

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

Influence of germline genetic variants on dermoscopic features of melanoma.

Pozzobon FC et al.

Pigment Cell & Melanoma Research, 2021

Skin pigmentation and its control: From ultraviolet radiation to stem cells.

Yardman-Frank JM et al.

Experimental Dermatology, 2021

Germline variants are associated with increased primary melanoma tumor thickness at diagnosis.

Mangantig E et al.

Human Molecular Genetics, 2021

33410475 (PubMed )
Supplement: hmg-2020-ez-00182_law_supplementary_table_clean_ddaa222.xlsx › Supplementary_Table_1

The role of MC1R gene variants and phenotypical features in predicting high nevus count.

van der Poel LAJ et al.

Melanoma Research, 2020

MC1R variants and cutaneous melanoma risk according to histological type, body site, and Breslow thickness: a pooled analysis from the M-SKIP project.

Caini S et al.

Melanoma Research, 2020

Melanocortin-1 receptor (MC1R) genotypes do not correlate with size in two cohorts of medium-to-giant congenital melanocytic nevi.

Calbet-Llopart N et al.

Pigment Cell & Melanoma Research, 2020

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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."