Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.W60C
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NF2

NM_000268.4:p.W60C

Associated Papers

Re-evaluation of missense variant classifications in NF2.

Sadler KV et al.

Human Mutation, 2022

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

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

Chinthalapudi K et al.

Nature Communications, 2018

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

Neurofibromatosis 2 tumor suppressor, the gene induced by valproic acid, mediates neurite outgrowth through interaction with paxillin.

Yamauchi J et al.

Experimental Cell Research, 2008

The merlin interacting proteins reveal multiple targets for NF2 therapy.

Scoles DR

Biochimica Et Biophysica Acta, 2008

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

Fernandez-Valle C et al.

Nature Genetics, 2002

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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."