Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.K80N
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NF2

NM_000268.4:p.K80N

Associated Papers

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

Re-evaluation of missense variant classifications in NF2.

Sadler KV et al.

Human Mutation, 2022

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

Conformational flexibility determines the Nf2/merlin tumor suppressor functions.

Primi MC et al.

Matrix Biology Plus, 2021

Critical roles of phosphoinositides and NF2 in Hippo pathway regulation.

Hong AW et al.

Genes & Development, 2020

FERM domain phosphoinositide binding targets merlin to the membrane and is essential for its growth-suppressive function.

Mani T et al.

Molecular and Cellular Biology, 2011

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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."