Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.Q23*
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MC1R

NM_002386.4:p.Q23*

Associated Papers

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

Soares de Sá BC 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

Molecular Profiling of Tumor Tissue in Mexican Patients with Colorectal Cancer.

Flores-López BA et al.

Current Issues in Molecular Biology, 2022

36005154 (PubMed )
Supplement: cimb-44-00258-s001.zip › File_S1-variant_description-Flores-Lo_pez_BA.pdf

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

35452484 (PubMed )
Supplement: pone.0267286.s002.xlsx › S2_Table_

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

34326492 (PubMed )
Supplement: NIHMS1754145-supplement-Supplemental_Table_2.xlsx › Sheet1

Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer.

Smith AL et al.

Cancer Letters, 2016

Comprehensive evaluation of allele frequency differences of MC1R variants across populations.

Gerstenblith MR et al.

Human Mutation, 2007

The Y152X MC1R gene mutation: occurrence in ethnically diverse Jewish malignant melanoma patients.

Galore G et al.

Melanoma Research, 2007

The relation between melanocortin 1 receptor (MC1R) variation and the generation of phenotypic diversity in the cutaneous response to ultraviolet radiation.

Wong TH et al.

Peptides, 2005

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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."