Varaico: Literature-Extracted Genetic Variants

Gene:MYCN
Variant:p.P60L
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MYCN

NM_005378.6:p.P60L

Associated Papers

Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor.

Wegert J et al.

Genome Medicine, 2025

40340749 (PubMed )
Supplement: 13073_2025_1482_MOESM1_ESM.xlsx › Table_S2

Clinicopathologic and Molecular Characterization of Basal Cell Carcinoma Arising at Sun-protected Sites.

Draper E et al.

The American Journal of Surgical Pathology, 2025

A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes.

Harris EL et al.

American Journal of Human Genetics, 2024

38141607 (PubMed )
Supplement: mmc3.pdf

MYCN in human development and diseases.

Nishio Y et al.

Frontiers in Oncology, 2024

Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome.

Nishio Y et al.

Hgg Advances, 2023

BRAF(V600E) Kinase Domain Duplication Identified in Therapy-Refractory Melanoma Patient-Derived Xenografts.

Kemper K et al.

Cell Reports, 2016

27320919 (PubMed )
Supplement: mmc2.xlsx › Mutation_matrix
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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."