Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.D425A
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PTPN11

NM_002834.5:p.D425A

Associated Papers

Mapping of PTP1B, TCPTP, SHP2, and Putative Substrates Reveals Novel Networks in Glomerular Podocytes.

LeBleu G et al.

Journal of Cellular Physiology, 2026

Proximity-labeling proteomics reveals remodeled interactomes and altered localization of pathogenic SHP2 variants.

van Vlimmeren AE et al.

Embo Reports, 2025

Age-related retinal degeneration resulting from the deletion of Shp2 tyrosine phosphatase in photoreceptor neurons.

Rajala A et al.

Cell Death & Disease, 2024

SHP2 as a primordial epigenetic enzyme expunges histone H3 pTyr-54 to amend androgen receptor homeostasis.

Chouhan S et al.

Nature Communications, 2024

An Integrated Proteomic Strategy to Identify SHP2 Substrates.

Zhu P et al.

Journal of Proteome Research, 2022

Effects of Noonan Syndrome-Germline Mutations on Mitochondria and Energy Metabolism.

Bajia D et al.

Cells, 2022

Structural insights into the pSer/pThr dependent regulation of the SHP2 tyrosine phosphatase in insulin and CD28 signaling.

Zeke A et al.

Nature Communications, 2022

Deficiency of the Src homology phosphatase 2 in podocytes is associated with renoprotective effects in mice under hyperglycemia.

Hsu MF et al.

Cellular and Molecular Life Sciences : Cmls, 2022

A specific amino acid context in EGFR and HER2 phosphorylation sites enables selective binding to the active site of Src homology phosphatase 2 (SHP2).

Hartman Z et al.

The Journal of Biological Chemistry, 2020

Noonan Syndrome-Associated SHP2 Dephosphorylates GluN2B to Regulate NMDA Receptor Function.

Levy AD et al.

Cell Reports, 2018

Tyrosine Kinase SYK Licenses MyD88 Adaptor Protein to Instigate IL-1α-Mediated Inflammatory Disease.

Gurung P et al.

Immunity, 2017

Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.

Noda S et al.

Biochemical and Biophysical Research Communications, 2016

Multivariate signaling regulation by SHP2 differentially controls proliferation and therapeutic response in glioma cells.

Furcht CM et al.

Journal of Cell Science, 2014

PECAM-1 is involved in BCR/ABL signaling and may downregulate imatinib-induced apoptosis of Philadelphia chromosome-positive leukemia cells.

Wu N et al.

International Journal of Oncology, 2013

Activating mutations in protein tyrosine phosphatase Ptpn11 (Shp2) enhance reactive oxygen species production that contributes to myeloproliferative disorder.

Xu D et al.

Plos One, 2013

The tyrosine phosphatase SHP2 regulates recovery of endothelial adherens junctions through control of β-catenin phosphorylation.

Timmerman I et al.

Molecular Biology of the Cell, 2012

SHP2 tyrosine phosphatase converts parafibromin/Cdc73 from a tumor suppressor to an oncogenic driver.

Takahashi A et al.

Molecular Cell, 2011

Regulation of RhoA-dependent ROCKII activation by Shp2.

Lee HH et al.

The Journal of Cell Biology, 2008

Modulation of alpha-catenin Tyr phosphorylation by SHP2 positively effects cell transformation induced by the constitutively active FGFR3.

Burks J et al.

Oncogene, 2006

Mutation of Thr466 in SHP2 abolishes its phosphatase activity, but provides a new substrate-trapping mutant.

Merritt R et al.

Biochimica Et Biophysica Acta, 2006

The major vault protein is a novel substrate for the tyrosine phosphatase SHP-2 and scaffold protein in epidermal growth factor signaling.

Kolli S et al.

The Journal of Biological Chemistry, 2004

Regulation of interleukin-3-induced substrate phosphorylation and cell survival by SHP-2 (Src-homology protein tyrosine phosphatase 2).

Wheadon H et al.

The Biochemical Journal, 2003

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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."