Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.S518A
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NF2

NM_000268.4:p.S518A

Associated Papers

Nf2/FGFR1/AKT axis directs cranial neural crest-derived skull morphogenesis via collagen synthesis and trafficking.

Huang Y et al.

Jci Insight, 2025

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

Han H et al.

Nature Communications, 2024

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

Goda N et al.

Development (cambridge, England), 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

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

Hennigan RF et al.

Plos One, 2023

The Hippo Signaling Pathway in Cancer: A Cell Cycle Perspective.

Xiao Y et al.

Cancers, 2021

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

Meng F et al.

Molecular Cell, 2021

Genetic alterations and their therapeutic implications in epithelial ovarian cancer.

Lapke N et al.

Bmc Cancer, 2021

33947352 (PubMed )
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Merlin cooperates with neurofibromin and Spred1 to suppress the Ras-Erk pathway.

Cui Y et al.

Human Molecular Genetics, 2021

NEDD4L-mediated Merlin ubiquitination facilitates Hippo pathway activation.

Wei Y et al.

Embo Reports, 2020

Critical roles of phosphoinositides and NF2 in Hippo pathway regulation.

Hong AW et al.

Genes & Development, 2020

The Role of Merlin/NF2 Loss in Meningioma Biology.

Lee S et al.

Cancers, 2019

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

Enhanced Dendritic Actin Network Formation in Extended Lamellipodia Drives Proliferation in Growth-Challenged Rac1P29S Melanoma Cells.

Mohan AS et al.

Developmental Cell, 2019

Proximity biotinylation identifies a set of conformation-specific interactions between Merlin and cell junction proteins.

Hennigan RF et al.

Science Signaling, 2019

The conformation change and tumor suppressor role of Merlin are both independent of Serine 518 phosphorylation.

Xing W et al.

Biochemical and Biophysical Research Communications, 2017

Growth factor and co-receptor release by structural regulation of substrate metalloprotease accessibility.

Parra LM et al.

Scientific Reports, 2016

Co-targeting of FAK and MDM2 triggers additive anti-proliferative effects in mesothelioma via a coordinated reactivation of p53.

Ou WB et al.

British Journal of Cancer, 2016

NF2 Activates Hippo Signaling and Promotes Ischemia/Reperfusion Injury in the Heart.

Matsuda T et al.

Circulation Research, 2016

Merlin status regulates p75(NTR) expression and apoptotic signaling in Schwann cells following nerve injury.

Ahmad I et al.

Neurobiology of Disease, 2015

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

Li Y et al.

Cell Research, 2015

Oncogenic role of Merlin/NF2 in glioblastoma.

Guerrero PA et al.

Oncogene, 2015

Merlin sumoylation is required for its tumor suppressor activity.

Qi Q et al.

Oncogene, 2014

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

Yin F et al.

Cell, 2013

The NF2 tumor suppressor regulates microtubule-based vesicle trafficking via a novel Rac, MLK and p38(SAPK) pathway.

Hennigan RF et al.

Oncogene, 2013

Distinct overlapping sequences at the carboxy-terminus of merlin regulate its tumour suppressor and morphogenic activity.

Laulajainen M et al.

Journal of Cellular and Molecular Medicine, 2012

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

Cooper J et al.

Science Signaling, 2011

Multistep phosphorylation by oncogenic kinases enhances the degradation of the NF2 tumor suppressor merlin.

Laulajainen M et al.

Neoplasia (new York, N.y.), 2011

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

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 neurofibromatosis 2 tumor suppressor gene product, merlin, regulates human meningioma cell growth by signaling through YAP.

Striedinger K et al.

Neoplasia (new York, N.y.), 2008

Merlin is a potent inhibitor of glioma growth.

Lau YK et al.

Cancer Research, 2008

VprBP targets Merlin to the Roc1-Cul4A-DDB1 E3 ligase complex for degradation.

Huang J et al.

Oncogene, 2008

Protein kinase A-mediated phosphorylation of the NF2 tumor suppressor protein merlin at serine 10 affects the actin cytoskeleton.

Laulajainen M et al.

Oncogene, 2008

The merlin interacting proteins reveal multiple targets for NF2 therapy.

Scoles DR

Biochimica Et Biophysica Acta, 2008

Phosphorylation of the NF2 tumor suppressor in Schwann cells is mediated by Cdc42-Pak and requires paxillin binding.

Thaxton C et al.

Molecular and Cellular Neurosciences, 2007

Tumorigenic transformation by CPI-17 through inhibition of a merlin phosphatase.

Jin H et al.

Nature, 2006

The Phosphorylation status of merlin is important for regulating the Ras-ERK pathway.

Jung JR et al.

Molecules and Cells, 2005

The NF2 tumor suppressor gene product, merlin, inhibits cell proliferation and cell cycle progression by repressing cyclin D1 expression.

Xiao GH et al.

Molecular and Cellular Biology, 2005

Magicin, a novel cytoskeletal protein associates with the NF2 tumor suppressor merlin and Grb2.

Wiederhold T et al.

Oncogene, 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

1–50 of 53 papers
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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."