Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.L46R
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NF2

NM_000268.4:p.L46R

Associated Papers

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

Han H et al.

Nature Communications, 2024

MerlinS13 phosphorylation regulates meningioma Wnt signaling and magnetic resonance imaging features.

Eaton CD et al.

Nature Communications, 2024

Missense variant interaction scanning reveals a critical role of the FERM domain for tumor suppressor protein NF2 conformation and function.

Moesslacher CS et al.

Life Science Alliance, 2023

MerlinS13 phosphorylation controls meningioma Wnt signaling and magnetic resonance imaging features.

Eaton C et al.

Research Square, 2023

Re-evaluation of missense variant classifications in NF2.

Sadler KV et al.

Human Mutation, 2022

35332608 (PubMed )
Supplement: HUMU-43-643-s001.xlsx › Sheet1

Induced phase separation of mutant NF2 imprisons the cGAS-STING machinery to abrogate antitumor immunity.

Meng F et al.

Molecular Cell, 2021

Cell-cell adhesion regulates Merlin/NF2 interaction with the PAF complex.

Roehrig AE et al.

Plos One, 2021

The paradox of cancer genes in non-malignant conditions: implications for precision medicine.

Adashek JJ et al.

Genome Medicine, 2020

Frequency of the Loss of Heterozygosity of the NF2 Gene in Sporadic Spinal Schwannomas.

DE Carvalho RM et al.

Anticancer Research, 2018

Merlin/NF2 loss-driven tumorigenesis linked to CRL4(DCAF1)-mediated inhibition of the hippo pathway kinases Lats1 and 2 in the nucleus.

Li W et al.

Cancer Cell, 2014

Spatial organization of Hippo signaling at the plasma membrane mediated by the tumor suppressor Merlin/NF2.

Yin F et al.

Cell, 2013

Genetic and epigenetic alterations of the NF2 gene in sporadic vestibular schwannomas.

Lee JD et al.

Plos One, 2012

Merlin/NF2 functions upstream of the nuclear E3 ubiquitin ligase CRL4DCAF1 to suppress oncogenic gene expression.

Cooper J et al.

Science Signaling, 2011

Missense mutations in the NF2 gene result in the quantitative loss of merlin protein and minimally affect protein intrinsic function.

Yang C et al.

Proceedings of the National Academy of Sciences of the United States of America, 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

Neurofibromatosis 2 (NF2) tumor suppressor schwannomin and its interacting protein HRS regulate STAT signaling.

Scoles DR et al.

Human Molecular Genetics, 2002

The structure of the FERM domain of merlin, the neurofibromatosis type 2 gene product.

Kang BS et al.

Acta Crystallographica. Section D, Biological Crystallography, 2002

Effects of Nf2 missense mutations on schwannomin interactions.

Scoles DR et al.

Biochemical and Biophysical Research Communications, 2002

The neurofibromatosis 2 tumor suppressor protein interacts with hepatocyte growth factor-regulated tyrosine kinase substrate.

Scoles DR et al.

Human Molecular Genetics, 2000

A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2.

Kluwe L et al.

Human Genetics, 1996

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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."