Varaico: Literature-Extracted Genetic Variants

Gene:LZTR1
Variant:p.E217A
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LZTR1

NM_006767.4:p.E217A

Associated Papers

Structural basis for LZTR1 recognition of RAS GTPases for degradation.

Dharmaiah S et al.

Science (new York, N.y.), 2025

Dysregulation of RAS proteostasis by autosomal-dominant LZTR1 mutation induces Noonan syndrome-like phenotypes in mice.

Abe T et al.

Jci Insight, 2024

Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variants.

Knauer C et al.

Molecular Therapy. Nucleic Acids, 2024

LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.

Farncombe KM et al.

Bmc Medical Genomics, 2022

LZTR1: A promising adaptor of the CUL3 family.

Zhang H et al.

Oncology Letters, 2021

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.

Motta M et al.

Human Molecular Genetics, 2019

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

Johnston JJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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."