Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.R4R
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PTPN11

NM_002834.5:p.R4R

Associated Papers

Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.

Zuriaga MA et al.

European Heart Journal, 2024

39212933 (PubMed )
Supplement: ehae546_supplementary_data.pdf

Canine Histiocytic and Hemophagocytic Histiocytic Sarcomas Display KRAS and Extensive PTPN11/SHP2 Mutations and Respond In Vitro to MEK Inhibition by Cobimetinib.

Yang YT et al.

Genes, 2024

39202410 (PubMed )
Supplement: genes-15-01050-s001.zip › Table_S1.pdf

KRAS Mutation Subtypes and Their Association with Other Driver Mutations in Oncogenic Pathways.

Mondal K et al.

Cells, 2024

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

KRAS p.G12C Mutation in Metastatic Colorectal Cancer: Prognostic Implications and Advancements in Targeted Therapies.

Ottaiano A et al.

Cancers, 2023

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

Cekani E et al.

Cancers, 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

Clonal evolution of acute myeloid leukemia revealed by high-throughput single-cell genomics.

Morita K et al.

Nature Communications, 2020

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

Loong HH et al.

Translational Lung Cancer Research, 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

Mutational profiling of isolated myeloid sarcomas and utility of serum 2HG as biomarker of IDH1/2 mutations.

Willekens C et al.

Leukemia, 2018

Genetic characterisation of molecular targets in carcinoma of unknown primary.

Clynick B et al.

Journal of Translational Medicine, 2018

Pathogenetics of the RASopathies.

Tidyman WE et al.

Human Molecular Genetics, 2016

Molecular profiling of infiltrating urothelial carcinoma of bladder and nonbladder origin.

Millis SZ et al.

Clinical Genitourinary Cancer, 2015

C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.

Klüppel M et al.

European Journal of Human Genetics : Ejhg, 2012

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.

Rauen KA et al.

American Journal of Medical Genetics. Part A, 2010

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.

Tidyman WE et al.

Current Opinion in Genetics & Development, 2009

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

Aoki Y et al.

Human Mutation, 2008

Deregulated Ras signaling in developmental disorders: new tricks for an old dog.

Schubbert S et al.

Current Opinion in Genetics & Development, 2007

Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.

Bertola DR et al.

Journal of Human Genetics, 2007

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

Kerr B et al.

Journal of Medical Genetics, 2006

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

Gripp KW et al.

American Journal of Medical Genetics. Part A, 2006

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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."