Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.L64P
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NF2

NM_000268.4:p.L64P

Associated Papers

Interactions among Merlin, Arkadia, and SKOR2 mediate NF2-associated human Schwann cell proliferation.

Tang PC et al.

Stem Cell Research & Therapy, 2025

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

Han H et al.

Nature Communications, 2024

Interactions among Merlin, Arkadia, and SKOR2 mediate NF2-associated Schwann cell proliferation in human.

Tang PC et al.

Biorxiv : the Preprint Server for Biology, 2024

Hippo pathway inactivation through subcellular localization of NF2/merlin in outer cells of mouse embryos.

Goda N et al.

Development (cambridge, England), 2024

Hippo-signaling-controlled MHC class I antigen processing and presentation pathway potentiates antitumor immunity.

Peng L et al.

Cell Reports, 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

Lipid kinase PIP5Kα contributes to Hippo pathway activation via interaction with Merlin and by mediating plasma membrane targeting of LATS1.

Le TPH et al.

Cell Communication and Signaling : Ccs, 2023

Merlin tumor suppressor function is regulated by PIP2-mediated dimerization.

Hennigan RF et al.

Plos One, 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

Prediction and evaluation of deleterious and disease causing non-synonymous SNPs (nsSNPs) in human NF2 gene responsible for neurofibromatosis type 2 (NF2).

Havranek B et al.

Journal of Biomolecular Structure & Dynamics, 2021

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

Meng F et al.

Molecular Cell, 2021

Characterization of UMi031-A-2 inducible pluripotent stem cell line with a neurofibromatosis type 2-associated mutation.

Nourbakhsh A et al.

Stem Cell Research, 2021

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

Roehrig AE et al.

Plos One, 2021

The NF2 tumor suppressor merlin interacts with Ras and RasGAP, which may modulate Ras signaling.

Cui Y et al.

Oncogene, 2019

Phosphorylation of Merlin by Aurora A kinase appears necessary for mitotic progression.

Mandati V et al.

The Journal of Biological Chemistry, 2019

Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy.

Pasmant E et al.

Neuro-chirurgie, 2018

Lipid binding promotes the open conformation and tumor-suppressive activity of neurofibromin 2.

Chinthalapudi K et al.

Nature Communications, 2018

NF2 Loss Promotes Oncogenic RAS-Induced Thyroid Cancers via YAP-Dependent Transactivation of RAS Proteins and Sensitizes Them to MEK Inhibition.

Garcia-Rendueles ME et al.

Cancer Discovery, 2015

In Silico Analysis of NF2 Gene Missense Mutations in Neurofibromatosis Type 2: From Genotype to Phenotype.

Heineman TE et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2015

Merlin sumoylation is required for its tumor suppressor activity.

Qi Q et al.

Oncogene, 2014

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

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

Schroeder RD et al.

Oncotarget, 2014

In vivo functional analysis of the human NF2 tumor suppressor gene in Drosophila.

Gavilan HS et al.

Plos One, 2014

Nf2/Merlin controls spinal cord neural progenitor function in a Rac1/ErbB2-dependent manner.

Garcia C et al.

Plos One, 2014

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

Yin F et al.

Cell, 2013

Stability of the tumor suppressor merlin depends on its ability to bind paxillin LD3 and associate with β1 integrin and actin at the plasma membrane.

Manetti ME et al.

Biology Open, 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

Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus.

Li W et al.

Cell, 2010

NF2/merlin is a novel negative regulator of mTOR complex 1, and activation of mTORC1 is associated with meningioma and schwannoma growth.

James MF et al.

Molecular and Cellular Biology, 2009

The merlin interacting proteins reveal multiple targets for NF2 therapy.

Scoles DR

Biochimica Et Biophysica Acta, 2008

[Phenotype-genotype study in 154 French NF2 mutation carriers].

Demange L et al.

Revue Neurologique, 2007

Akt phosphorylation regulates the tumour-suppressor merlin through ubiquitination and degradation.

Tang X et al.

Nature Cell Biology, 2007

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

Evolution and origin of merlin, the product of the Neurofibromatosis type 2 (NF2) tumor-suppressor gene.

Golovnina K et al.

Bmc Evolutionary Biology, 2005

Neurofibromatosis 2 (NF2) tumor suppressor merlin inhibits phosphatidylinositol 3-kinase through binding to PIKE-L.

Rong R et al.

Proceedings of the National Academy of Sciences of the United States of America, 2004

Serine 518 phosphorylation modulates merlin intramolecular association and binding to critical effectors important for NF2 growth suppression.

Rong R et al.

Oncogene, 2004

Effect of merlin phosphorylation on neurofibromatosis 2 (NF2) gene function.

Surace EI et al.

Oncogene, 2004

NF2 deficiency promotes tumorigenesis and metastasis by destabilizing adherens junctions.

Lallemand D et al.

Genes & Development, 2003

Paxillin binds schwannomin and regulates its density-dependent localization and effect on cell morphology.

Fernandez-Valle C et al.

Nature Genetics, 2002

Structural basis for neurofibromatosis type 2. Crystal structure of the merlin FERM domain.

Shimizu T et al.

The Journal of Biological Chemistry, 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

The neurofibromatosis type 2 gene product, merlin, reverses the F-actin cytoskeletal defects in primary human Schwannoma cells.

Bashour AM et al.

Molecular and Cellular Biology, 2002

Functional analysis of neurofibromatosis 2 (NF2) missense mutations.

Gutmann DH et al.

Human Molecular Genetics, 2001

Loss of DAL-1, a protein 4.1-related tumor suppressor, is an important early event in the pathogenesis of meningiomas.

Gutmann DH et al.

Human Molecular Genetics, 2000

Functional analysis of the neurofibromatosis type 2 protein by means of disease-causing point mutations.

Stokowski RP et al.

American Journal of Human Genetics, 2000

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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."