Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.L339F
Back to variants list

NF2

NM_000268.4:p.L339F

Associated Papers

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

Han H et al.

Nature Communications, 2024

39572544 (PubMed )
Supplement: 41467_2024_54480_MOESM3_ESM.zip › Supplementary_Data › Supplementary_Data_3.xlsx › All_Hippo_missense_mutations

Re-evaluation of missense variant classifications in NF2.

Sadler KV et al.

Human Mutation, 2022

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

Molecular alterations of the NF2 gene in hepatocellular carcinoma and intrahepatic cholangiocarcinoma.

Zhang N et al.

Oncology Reports, 2017

The myosin phosphatase targeting protein (MYPT) family: a regulated mechanism for achieving substrate specificity of the catalytic subunit of protein phosphatase type 1δ.

Grassie ME et al.

Archives of Biochemistry and Biophysics, 2011

Functional inactivation of NF2/merlin in human mesothelioma.

Thurneysen C et al.

Lung Cancer (amsterdam, Netherlands), 2009

Self-masking in an intact ERM-merlin protein: an active role for the central alpha-helical domain.

Li Q et al.

Journal of Molecular 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

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

Jin H et al.

Nature, 2006

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

Shimizu T et al.

The Journal of Biological Chemistry, 2002

Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas.

De Vitis LR et al.

Human Genetics, 1996

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."