Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.R163Q
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MC1R

NM_002386.4:p.R163Q

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

Augmenting precision medicine via targeted RNA-Seq detection of expressed mutations.

Li D et al.

Npj Precision Oncology, 2025

40514442 (PubMed )
Supplement: 41698_2025_993_MOESM2_ESM.xlsx › RNA-unique_variants__Impacts_

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

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

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table2.xls › Sheet1

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

Tian X et al.

Plos Biology, 2024

Establishing a Collaborative Genomic Repository for Adult Burn Survivors: A Burn Model System Feasibility Study.

Sibbett S et al.

European Burn Journal, 2024

Journey through the spectacular landscape of melanocortin 1 receptor.

Upadhyay PR et al.

Pigment Cell & Melanoma Research, 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

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

Soares de Sá BC et al.

International Journal of Molecular Sciences, 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

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

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL19

Correlation Between the Warrior/Worrier Gene on Post Burn Pruritus and Scarring: A Prospective Cohort Study.

Oh J et al.

Annals of Surgery, 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

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 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

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

Yardman-Frank JM et al.

Experimental Dermatology, 2021

Dermoscopy comparative approach for early diagnosis in familial melanoma: influence of MC1R genotype.

Longo C et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2021

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."