Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.E463K
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NF2

NM_000268.4:p.E463K

Associated Papers

Functional annotation of the Hippo pathway somatic mutations in human cancers.

Han H et al.

Nature Communications, 2024

39572544 (PubMed )
Supplement: 41467_2024_54480_MOESM3_ESM.zip › Supplementary_Data › Supplementary_Data_2.xlsx › All_Hippo_somatic_mutations

Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Vormittag-Nocito E et al.

Cancer Medicine, 2023

36125633 (PubMed )
Supplement: CAM4-12-4042-s001.xlsx › Sheet1

Low-grade oncocytic tumour of the kidney is characterised by genetic alterations of TSC1, TSC2, MTOR or PIK3CA and consistent GATA3 positivity.

Williamson SR et al.

Histopathology, 2023

Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Gounder MM et al.

Nature Communications, 2022

35705558 (PubMed )
Supplement: 41467_2022_30496_MOESM2_ESM.xls › variants_table_final_for_supple

Re-evaluation of missense variant classifications in NF2.

Sadler KV et al.

Human Mutation, 2022

Clinically Advanced Pheochromocytomas and Paragangliomas: A Comprehensive Genomic Profiling Study.

Bratslavsky G et al.

Cancers, 2021

NEDD4L-mediated Merlin ubiquitination facilitates Hippo pathway activation.

Wei Y et al.

Embo Reports, 2020

Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Lang GT et al.

Nature Communications, 2020

High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Razavi P et al.

Nature Medicine, 2019

31768066 (PubMed )
Supplement: NIHMS1541314-supplement-1541314_SourceDataFig1.xlsx › Fig_1d

Eosinophilic Solid and Cystic (ESC) Renal Cell Carcinomas Harbor TSC Mutations: Molecular Analysis Supports an Expanding Clinicopathologic Spectrum.

Palsgrove DN et al.

The American Journal of Surgical Pathology, 2018

Oral Cavity Squamous Cell Carcinoma Xenografts Retain Complex Genotypes and Intertumor Molecular Heterogeneity.

Campbell KM et al.

Cell Reports, 2018

30134176 (PubMed )
Supplement: NIHMS1520774-supplement-Table_S2.xlsx › Patient_2

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

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.

Chalmers ZR et al.

Genome Medicine, 2017

28420421 (PubMed )
Supplement: 13073_2017_424_MOESM7_ESM.xlsx › Sheet1

Angiomotin binding-induced activation of Merlin/NF2 in the Hippo pathway.

Li Y et al.

Cell Research, 2015

NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations.

Schroeder RD et al.

Oncotarget, 2014

A high frequency of activating extracellular domain ERBB2 (HER2) mutation in micropapillary urothelial carcinoma.

Ross JS et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2014

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

A tight junction-associated Merlin-angiomotin complex mediates Merlin's regulation of mitogenic signaling and tumor suppressive functions.

Yi C et al.

Cancer Cell, 2011

Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings.

Ahronowitz I et al.

Human Mutation, 2007

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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."