Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.R4R
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PTPN11

NM_002834.5:p.R4R

Associated Papers

Clinical Spectrum of Noonan Syndrome-Associated Myeloproliferative Disorder.

Hirabayashi S et al.

American Journal of Hematology, 2026

SFX-01 is therapeutic against myeloproliferative disorders caused by activating mutations in Shp2.

Cho HJ et al.

Embo Molecular Medicine, 2025

Novel MSH6 exon 5-6 skipping variant in a Taiwanese family with Lynch syndrome: implications for genetic testing and cancer management.

Wang TY et al.

Molecular Cytogenetics, 2025

40069757 (PubMed )
Supplement: 13039_2025_708_MOESM1_ESM.pdf

Baseline mutational profiles of patients with carcinoma of unknown primary origin enrolled in the CUPISCO study.

Westphalen CB et al.

Esmo Open, 2023

37922692 (PubMed )
Supplement: mmc1.docx

Single-cell signaling analysis reveals that Major Vault Protein facilitates RasG12C inhibitor resistance.

Zhang JZ et al.

Biorxiv : the Preprint Server for Biology, 2023

Mutation of PTPN11 (Encoding SHP-2) Promotes MEK Activation and Malignant Progression in Neurofibromin-Deficient Cells in a Manner Sensitive to BRAP Mutation.

Harigai R et al.

Cancers, 2022

Discovery of novel furanylbenzamide inhibitors that target oncogenic tyrosine phosphatase SHP2 in leukemia cells.

Raveendra-Panickar D et al.

The Journal of Biological Chemistry, 2022

Modeling (not so) rare developmental disorders associated with mutations in the protein-tyrosine phosphatase SHP2.

Solman M et al.

Frontiers in Cell and Developmental Biology, 2022

RAS as a positive predictive biomarker: focus on lung and colorectal cancer patients.

Malapelle U et al.

European Journal of Cancer (oxford, England : 1990), 2021

Structural impact of GTP binding on downstream KRAS signaling.

Menyhárd DK et al.

Chemical Science, 2020

Clinical Implication of Concordant or Discordant Genomic Profiling between Primary and Matched Metastatic Tissues in Patients with Colorectal Cancer.

Choi JY et al.

Cancer Research and Treatment, 2020

Genomic profiling of primary histiocytic sarcoma reveals two molecular subgroups.

Egan C et al.

Haematologica, 2020

Tumor Intrinsic Efficacy by SHP2 and RTK Inhibitors in KRAS-Mutant Cancers.

Hao HX et al.

Molecular Cancer Therapeutics, 2019

31439712 (PubMed )
Supplement: 15357163mct190170-sup-217436_2_supp_5691166_pvrtk4.xlsx › PTPN11_shRNA_data

Targeted Sequencing Analysis of Pulmonary Adenocarcinoma with Multiple Synchronous Ground-Glass/Lepidic Nodules.

Park E et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2018

A KRAS wild type mutational status confers a survival advantage in pancreatic ductal adenocarcinoma.

Windon AL et al.

Journal of Gastrointestinal Oncology, 2018

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

Aoki Y et al.

Human Mutation, 2008

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

Kerr B et al.

Journal of Medical 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

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

Tartaglia M et al.

American Journal of Human Genetics, 2002

Mutation screening of the PTPN11 gene in hypertrophic cardiomyopathy.

Limongelli G et al.

European Journal of Medical Genetics, 0

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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."