Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.V92M
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MC1R

NM_002386.4:p.V92M

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

Mutation ages and population origins inferred from genomes in structured populations.

Nagel AA et al.

Genetics, 2026

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

The senescence-like activity of BMS-470539 is associated with anti-fibrotic actions in models of dermal fibrosis.

Davan-Wetton CS et al.

Arthritis Research & Therapy, 2025

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

Bardhan M et al.

Diseases (basel, Switzerland), 2025

Genomic insights into the demographic history and local adaptation of wild boars across Eurasia.

Wang Z et al.

Cell Genomics, 2025

40712570 (PubMed )
Supplement: mmc4.xlsx › Table_S7

Gene Mutation-Negative Malignant Melanoma in a Prepubertal Patient: A Clinical and Molecular Case Report.

Guźniczak A et al.

Genes, 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

40429816 (PubMed )
Supplement: ijms-26-04674-s001.zip › ijms-3524919-supplementary.xlsx › Table_S1

Prediction of Skin Color Using Forensic DNA Phenotyping in Asian Populations: A Focus on Thailand.

Perez Palomeque G et al.

Biomolecules, 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

Characterization of the Coding Sequence of the MC1R (Melanocortin 1 Receptor) Gene of Ayam Cemani Black Chickens.

Horecka B et al.

Animals : an Open Access Journal From Mdpi, 2024

A comparative medical genomics approach may facilitate the interpretation of rare missense variation.

Haque B et al.

Journal of Medical Genetics, 2024

Mapping and annotating genomic loci to prioritize genes and implicate distinct polygenic adaptations for skin color.

Kim B et al.

Nature Communications, 2024

38849341 (PubMed )
Supplement: 41467_2024_49031_MOESM4_ESM.xlsx › Data_5

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

Zheng C et al.

Cancer Treatment and Research Communications, 2024

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

Soares de Sá BC et al.

International Journal of Molecular Sciences, 2023

Polymorphisms in corticotrophin-releasing hormone-proopiomalanocortin (CRH-POMC) system genes: Neuroimmune contributions to psoriasis disease.

Galimova E et al.

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

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

Brancato D et al.

Genes, 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

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

Additional predictions for forensic DNA phenotyping of externally visible characteristics using the ForenSeq and Imagen kits.

Elkins KM et al.

Journal of Forensic Sciences, 2023

Implication of Melanocortin Receptor Genes in the Familial Comorbidity of Type 2 Diabetes and Depression.

Amin M et al.

International Journal of Molecular Sciences, 2022

Natural Killer cells demonstrate distinct eQTL and transcriptome-wide disease associations, highlighting their role in autoimmunity.

Gilchrist JJ et al.

Nature Communications, 2022

Functional characterization of cAMP signaling of variant porcine MC1R alleles in PK15 cells.

Lan J et al.

Animal Genetics, 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 analysis of multiple primary melanomas arising within the boundaries of congenital nevi depigmentosa.

Fuiten AM et al.

Pigment Cell & Melanoma Research, 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

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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."