Varaico: Literature-Extracted Genetic Variants

Gene:MAP2K1
Variant:p.Q58del1
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MAP2K1

NM_002755.4:p.Q58del1

Associated Papers

RAS Pathway Mutations and Therapeutics in Vascular Anomalies.

Alharbi S et al.

Pediatric Blood & Cancer, 2025

MAP2K1 Mutation in Zebrafish Endothelial Cells Causes Arteriovenous Shunts Preventable by MEK Inhibition.

Sudduth CL et al.

Journal of Vascular Anomalies, 2023

The Pan-Tumor Landscape of Targetable Kinase Fusions in Circulating Tumor DNA.

Lee JK et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022

Genetics of vascular anomalies.

Nguyen HL et al.

Seminars in Pediatric Surgery, 2020

The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation.

Nguyen V et al.

International Journal of Molecular Sciences, 2019

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

Al-Olabi L et al.

The Journal of Clinical Investigation, 2018

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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."