Varaico: Literature-Extracted Genetic Variants

Gene:FBXW7
Variant:p.S462P
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FBXW7

NM_001349798.2:p.S462P

Associated Papers

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F-box domain.

Muhammad A et al.

Epilepsia Open, 2026

Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome.

Saito Y et al.

Journal of Human Genetics, 2025

Further evidence that the neurodevelopmental gene FBXW7 predisposes to Wilms tumor.

Meier-Abt F et al.

American Journal of Medical Genetics. Part A, 2024

The Highs and Lows of FBXW7: New Insights into Substrate Affinity in Disease and Development.

de la Cova CC

Cells, 2023

Clinical significance of FBXW7 loss of function in human cancers.

Fan J et al.

Molecular Cancer, 2022

Multigene Panel Sequencing Reveals Cancer-Specific and Common Somatic Mutations in Colorectal Cancer Patients: An Egyptian Experience.

Youssef ASE et al.

Current Issues in Molecular Biology, 2022

Loss of FBXW7-mediated degradation of BRAF elicits resistance to BET inhibitors in adult T cell leukemia cells.

Yeh CH et al.

Molecular Cancer, 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."