Varaico: Literature-Extracted Genetic Variants

Gene:NEDD4L
Variant:p.S321Y
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NEDD4L

NM_001144967.3:p.S321Y

Associated Papers

Profiling the TRPV4 ankyrin repeat domain interactome and its disruption by neuromuscular disease-causing mutations.

Loder AK et al.

The Journal of Biological Chemistry, 2026

Transposon mediated functional genomic screening for BRAF inhibitor resistance reveals convergent Hippo and MAPK pathway activation events.

Chen L et al.

Scientific Reports, 2025

Infantile spasms-linked Nedd4-2 mediates hippocampal plasticity and learning via cofilin signaling.

Lee KY et al.

Embo Reports, 2021

Unbiased proteomic screening identifies a novel role for the E3 ubiquitin ligase Nedd4-2 in translational suppression during ER stress.

Eagleman DE et al.

Journal of Neurochemistry, 2021

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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."