Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.Q538P
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NF2

NM_000268.4:p.Q538P

Associated Papers

Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas.

Youngblood MW et al.

Nature Communications, 2023

37805627 (PubMed )
Supplement: 41467_2023_41926_MOESM3_ESM.xlsx › SD1

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF2

Re-evaluation of missense variant classifications in NF2.

Sadler KV et al.

Human Mutation, 2022

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

Mandati V et al.

The Journal of Biological Chemistry, 2019

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

Li Y et al.

Cell Research, 2015

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

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

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 schwannomin and its interacting protein HRS regulate STAT signaling.

Scoles DR et al.

Human Molecular Genetics, 2002

Effects of Nf2 missense mutations on schwannomin interactions.

Scoles DR et al.

Biochemical and Biophysical Research Communications, 2002

Functional analysis of neurofibromatosis 2 (NF2) missense mutations.

Gutmann DH et al.

Human Molecular Genetics, 2001

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

Scoles DR et al.

Human Molecular Genetics, 2000

Structure of the ERM protein moesin reveals the FERM domain fold masked by an extended actin binding tail domain.

Pearson MA et al.

Cell, 2000

Neurofibromatosis 2 tumour suppressor schwannomin interacts with betaII-spectrin.

Scoles DR et al.

Nature Genetics, 1998

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."