Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.E76K
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PTPN11

NM_002834.5:p.E76K

Associated Papers

Characterization of the clonal hierarchy and immunophenotype of PTPN11 mutations in acute myeloid leukemia.

Fobare S et al.

Jci Insight, 2026

Targeting MCL-1 and MAPK overcomes venetoclax resistance in FLT3-ITD-positive AML cells harbouring activating PTPN11 (SHP-2) mutations.

Fleischmann M et al.

British Journal of Haematology, 2026

Activating Ras-MAPK pathway variants drive hippocampal clonal competition in human epilepsy.

Khoshkhoo S et al.

Biorxiv : the Preprint Server for Biology, 2026

Regulation and activity of the phosphatase SHP2: SH2 domains, dephosphorylation activity, and beyond.

Pierotti CL et al.

Biochemical Society Transactions, 2026

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

van Vlimmeren AE et al.

Embo Reports, 2025

Mechanism of SHP2 activation by bis-Tyr-phosphorylated Gab1.

Machner L et al.

Structure (london, England : 1993), 2025

Complex genetic landscape in CLL: Clinical impact on patients' survival and insights into the altered molecular pathways.

Caputo C et al.

Molecular Therapy. Oncology, 2025

41035777 (PubMed )
Supplement: mmc1.pdf

Phosphatase SHP2 pathogenic mutations enhance activity by altering conformational sampling.

Glaser AW et al.

Biorxiv : the Preprint Server for Biology, 2025

Ultrasensitive Detection of Rare Mutations via Amplifying-Cleaving-Enriching in Acute Myeloid Leukemia.

Zhuang X et al.

Biomedicines, 2025

Fumarate hydratase-mutant glioma with giant-cell histology, MSH6 mutation, and hypermutation.

Mafficini A et al.

Journal of Neuropathology and Experimental Neurology, 2025

Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.

Voss RK et al.

Leukemia, 2025

41057686 (PubMed )
Supplement: 41375_2025_2774_MOESM2_ESM.xlsx › S3_-_SNVs__small_INDELS

The pathogenic E139D mutation stabilizes a non-canonical active state of the multi-domain phosphatase SHP2.

van Vlimmeren AE et al.

Protein Science : a Publication of the Protein Society, 2025

EWSR1-and FUS-rearranged acute leukemias: Clinicopathological and genomic characterization.

Nguyen VT et al.

Human Pathology, 2025

Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.

Cheng WY et al.

Blood, 2025

40829168 (PubMed )
Supplement: BLOOD_BLD-2024-027692-mmc5.xlsx › Sheet_1

Enabling whole genome sequencing analysis from FFPE specimens in clinical oncology.

Domenico D et al.

Nature Communications, 2025

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.

Corbett RJ et al.

Nature Communications, 2025

41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM13_ESM.xlsx › germline_snv_indel

Understanding Molecular Basis of PTPN11-Related Diseases.

Um S et al.

Arxiv, 2025

Unveiling splicing disruptions due to common somatic variants in acute myeloid leukemia.

Morote-Faubel M et al.

Human Genomics, 2025

41189001 (PubMed )
Supplement: 40246_2025_842_MOESM1_ESM.pdf

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Grb2
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