Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.Q510K
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PTPN11

NM_002834.5:p.Q510K

Associated Papers

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

van Vlimmeren AE et al.

Embo Reports, 2025

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

van Vlimmeren AE et al.

Biorxiv : the Preprint Server for Biology, 2025

Multiplexed single-cell transcriptomics reveals diverse phenotypic outcomes for pathogenic SHP2 variants.

van Vlimmeren AE et al.

Biorxiv : the Preprint Server for Biology, 2025

Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.

Jiang Z et al.

Nature Communications, 2025

40595497 (PubMed )
Supplement: 41467_2025_60641_MOESM5_ESM.xlsx › Clinical_Variants

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

Deep mutational scanning of a multi-domain signaling protein reveals mechanisms of regulation and pathogenicity.

Jiang Z et al.

Biorxiv : the Preprint Server for Biology, 2024

39091798 (PubMed )
Supplement: media-6.xlsx › Clinical_Variants

Clonal hematopoiesis with DNMT3A and PPM1D mutations impairs regeneration in autologous stem cell transplant recipients.

Stelmach P et al.

Haematologica, 2023

37381752 (PubMed )
Supplement: 2023_282992_STELMACH_SUPPL.pdf

Rapid and Automated Semiconductor-Based Next-Generation Sequencing for Simultaneous Detection of Somatic DNA and RNA Aberrations in Myeloid Neoplasms.

Sande CM et al.

The Journal of Molecular Diagnostics : Jmd, 2023

Comprehensive molecular characterization of pediatric radiation-induced high-grade glioma.

DeSisto J et al.

Nature Communications, 2021

34545084 (PubMed )
Supplement: 41467_2021_25709_MOESM11_ESM.xlsx › ST11

Recent Advances of SHP2 Inhibitors in Cancer Therapy: Current Development and Clinical Application.

Yuan X et al.

Journal of Medicinal Chemistry, 2020

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

31745186 (PubMed )
Supplement: 41598_2019_52000_MOESM2_ESM.xlsx › Sheet1

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.

Maher GJ et al.

Genome Research, 2018

30355600 (PubMed )
Supplement: supp_gr.239186.118_Supplemental_Table_S3.xlsx › Table_of_prioritized_calls

Development and validation of a scalable next-generation sequencing system for assessing relevant somatic variants in solid tumors.

Hovelson DH et al.

Neoplasia (new York, N.y.), 2015

25925381 (PubMed )
Supplement: mmc1.pdf

Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Kiel C et al.

Molecular Systems Biology, 2014

24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

Aoki Y et al.

Human Mutation, 2008

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.

Gelb BD et al.

Human Molecular Genetics, 2006

Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia.

Bentires-Alj M et al.

Cancer Research, 2004

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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."