Varaico: Literature-Extracted Genetic Variants

Gene:LZTR1
Variant:p.Q10fs
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LZTR1

NM_006767.4:p.Q10fs

Associated Papers

A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.

Weller C et al.

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

40705880 (PubMed )
Supplement: science.ads0239_data_s1_to_s6.zip › science.ads0239_data_s4.xlsx › Sheet1

Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses.

Lucas CG et al.

Neuro-oncology, 2025

39560080 (PubMed )
Supplement: noae214_suppl_supplementary_tables.xlsx › Table_S5

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

A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review.

Zhao X et al.

Bmc Endocrine Disorders, 2021

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.

Umeki I et al.

Human 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."