Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.R151C
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MC1R

NM_002386.4:p.R151C

Associated Papers

Personalized surveillance in giant congenital melanocytic nevus, including the role of AI, histopathology and MC1R genotyping: A case report.

Vasilev P et al.

Biomedical Reports, 2026

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

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

Polo-Silveira L et al.

The Journal of Investigative Dermatology, 2025

Polymorphism of Melanocortin Receptor Genes-Association with Inflammatory Traits and Diseases.

Bardhan M et al.

Diseases (basel, Switzerland), 2025

Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders.

Manga P et al.

Annals of Human Genetics, 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

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

40429816 (PubMed )
Supplement: ijms-26-04674-s001.zip › ijms-3524919-supplementary.xlsx › Table_S2

The Diagnostic Yield of Panel Versus Exome Sequencing to Identify Hereditary Cancer Disorders in Pediatric Cancer.

Lozinsky SM et al.

Journal of Pediatric Hematology/oncology, 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

Melanoma-associated melanocortin 1 receptor variants confer redox signaling-dependent protection against oxidative DNA damage.

Castejón-Griñán M et al.

Redox Biology, 2024

The impact of genetic variants related to vitamin D and autoimmunity: A systematic review.

Trefilio LM et al.

Heliyon, 2024

Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families.

Zaman Q et al.

Gene, 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

Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.

Vodicska B et al.

World Journal of Pediatrics : Wjp, 2023

36914906 (PubMed )
Supplement: 12519_2023_700_MOESM1_ESM.xlsx › Driver_list

Distinct cAMP Signaling Microdomains Differentially Regulate Melanosomal pH and Pigmentation.

Yusupova M et al.

The Journal of Investigative Dermatology, 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

A Side-by-Side Comparison of Wildtype and Variant Melanocortin 1 Receptor Signaling with Emphasis on Protection against Oxidative Damage to DNA.

Cerdido S et al.

International Journal of Molecular Sciences, 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

Forensic DNA Phenotyping: Genes and Genetic Variants for Eye Color Prediction.

Brancato D et al.

Genes, 2023

The Role of Gender Pharmacogenetics in the Personalization of Drug Treatment.

Cecchin E et al.

The Journal of Pharmacology and Experimental Therapeutics, 2023

Phenotypic and Dermoscopic Patterns of Familial Melanocytic Lesions: A Pilot Study in a Third-Level Center.

Roccuzzo G et al.

Cancers, 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

Native American genetic ancestry and pigmentation allele contributions to skin color in a Caribbean population.

Ang KC et al.

Elife, 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

Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus.

Mathieson I et al.

Nature Human Behaviour, 2023

AMPK Phosphorylates ZDHHC13 to Increase MC1R Activity and Suppress Melanomagenesis.

Sun Y et al.

Cancer Research, 2023

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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."