Varaico: Literature-Extracted Genetic Variants

Gene:LZTR1
Variant:p.R170W
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LZTR1

NM_006767.4:p.R170W

Associated Papers

Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.

Berg T et al.

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

40121945 (PubMed )
Supplement: mmc5.xlsx › Ark1

Biventricular outflow tract obstruction due to hypertrophy related to compound heterozygous variants in LZTR1.

Wang S et al.

Esc Heart Failure, 2024

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

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

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon
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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."