Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.D294H
Back to variants list

MC1R

NM_002386.4:p.D294H

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

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

UVA-induced DNA damage and mutations in human melanocytes: relevance for melanoma mutations.

Jin SG et al.

Nucleic Acids Research, 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

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

Germline loss-of-function variant in the E3 ubiquitin ligase TRAF2 in a young adult patient with medulloblastoma: a case report.

Vo JN et al.

Acta Neuropathologica Communications, 2024

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

Journey through the spectacular landscape of melanocortin 1 receptor.

Upadhyay PR et al.

Pigment Cell & Melanoma Research, 2024

Skin colour: A window into human phenotypic evolution and environmental adaptation.

Liu J et al.

Molecular Ecology, 2024

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

Trefilio LM et al.

Heliyon, 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

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

37679505 (PubMed )
Supplement: 41698_2023_437_MOESM2_ESM.pdf

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

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

AMPK Phosphorylates ZDHHC13 to Increase MC1R Activity and Suppress Melanomagenesis.

Sun Y et al.

Cancer Research, 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

Cutaneous Melanoma and Glioblastoma Multiforme Association-Case Presentation and Literature Review.

Orzan OA et al.

Diagnostics (basel, Switzerland), 2023

Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.

Waldman S et al.

Cell, 2022

36455558 (PubMed )
Supplement: NIHMS1852590-supplement-MMC2.xlsx › 6

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

Genome-wide association study of pain sensitivity assessed by questionnaire and the cold pressor test.

Fontanillas P et al.

Pain, 2022

Defining novel causal SNPs and linked phenotypes at melanoma-associated loci.

Castaneda-Garcia C et al.

Human Molecular Genetics, 2022

PRECOGx: exploring GPCR signaling mechanisms with deep protein representations.

Matic M et al.

Nucleic Acids Research, 2022

MC1R Functions, Expression, and Implications for Targeted Therapy.

Guida S et al.

The Journal of Investigative Dermatology, 2022

1–50 of 466 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."