Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.G13D
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PTPN11

NM_002834.5:p.G13D

Associated Papers

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 › COSMIC_annotated

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-3.xlsx › SHP2-FL_cSrc-KD_column

Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.

Zuriaga MA et al.

European Heart Journal, 2024

39212933 (PubMed )
Supplement: ehae546_supplementary_data.pdf

Targeting KRAS in cancer.

Singhal A et al.

Nature Medicine, 2024

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

Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk.

Yu Z et al.

The Journal of Clinical Investigation, 2023

37498674 (PubMed )
Supplement: jci-133-168597-s140.pdf

Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.

Haefliger S et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2023

Setting sail: Maneuvering SHP2 activity and its effects in cancer.

Welsh CL et al.

Advances in Cancer Research, 2023

Molecular Biology and Therapeutic Perspectives for K-Ras Mutant Non-Small Cell Lung Cancers.

Cekani E et al.

Cancers, 2022

Clinical significance of RAS pathway alterations in pediatric acute myeloid leukemia.

Kaburagi T et al.

Haematologica, 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

KRAS G12C mutations in Asia: a landscape analysis of 11,951 Chinese tumor samples.

Loong HH et al.

Translational Lung Cancer Research, 2020

Pembrolizumab Activity in Recurrent High-Grade Gliomas with Partial or Complete Loss of Mismatch Repair Protein Expression: A Monocentric, Observational and Prospective Pilot Study.

Lombardi G et al.

Cancers, 2020

32823925 (PubMed )
Supplement: cancers-12-02283-s001.pdf

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_5691169_pvrtk4.xlsx › RTKi_2D_3D_screen

Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era.

Stuurman KE et al.

Journal of Medical Genetics, 2019

Ordering of mutations in acute myeloid leukemia with partial tandem duplication of MLL (MLL-PTD).

Sun QY et al.

Leukemia, 2017

27389053 (PubMed )
Supplement: leu2016160x1.doc

Allosteric inhibition of SHP2 phosphatase inhibits cancers driven by receptor tyrosine kinases.

Chen YN et al.

Nature, 2016

Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies.

Xiu J et al.

Oncotarget, 2016

26933808 (PubMed )
Supplement: oncotarget-07-21556-s001.pdf

Molecular profiles of high-grade and low-grade pseudomyxoma peritonei.

Noguchi R et al.

Cancer Medicine, 2015

Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.

Yoshida N et al.

Pediatric Research, 2009

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

Aoki Y et al.

Human Mutation, 2008

Costello syndrome: clinical diagnosis in the first year of life.

Digilio MC et al.

European Journal of Pediatrics, 2008

PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia.

Yamamoto T et al.

Leukemia Research, 2006

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

Kerr B et al.

Journal of Medical Genetics, 2006

Somatic PTPN11 mutations in childhood acute myeloid leukaemia.

Tartaglia M et al.

British Journal of Haematology, 2005

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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."