Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.T507K
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PTPN11

NM_002834.5:p.T507K

Associated Papers

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

van Vlimmeren AE et al.

Embo Reports, 2025

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections.

Gulrajani NB et al.

Prenatal Diagnosis, 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

Patient-derived tumoroids recapitulate the morphologic and molecular features of pediatric brain tumors.

Soares-Ferreira B et al.

Npj Precision Oncology, 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

Genetic diseases underlying a spectrum of fetal effusions.

Gulrajani NB et al.

American Journal of Obstetrics and Gynecology, 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

How to combine multiple tools for the genetic diagnosis work-up of pediatric B-cell acute lymphoblastic leukemia.

Hidalgo-Gómez G et al.

Annals of Hematology, 2025

39843811 (PubMed )
Supplement: 277_2024_6151_MOESM1_ESM.xlsx › S1._Genetics_data

Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.

Odintsov I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39820259 (PubMed )
Supplement: ccr-24-3277_supplementary_table_s1_suppts1.xlsx › SNV_INDEL

Potential Off-Target Effect of Gilteritinib With Venetoclax Decreases Tumor Burden for Patients With Relapsed/Refractory Wild-Type FLT3 Acute Myeloid Leukemia/Myelodysplastic Neoplasms.

Chang S et al.

Case Reports in Hematology, 2025

Predictive Molecular Biomarkers of Bladder Cancer Identified by Next-Generation Sequencing-Preliminary Data.

Myszka A et al.

Journal of Clinical Medicine, 2024

Genomic Profiling in Glioma Patients to Explore Clinically Relevant Markers.

Varachev V et al.

International Journal of Molecular Sciences, 2024

39684714 (PubMed )
Supplement: ijms-25-13004-s001.zip › Table_S1._Examples_of_somatic_genetic_alterations_in_glioma_samples.xlsx › ____1

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

Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors.

Kuehn JC et al.

Npj Precision Oncology, 2024

39143272 (PubMed )
Supplement: 41698_2024_674_MOESM2_ESM.xlsx › Supplementary_Data_3

TLE3 Is a Novel Fusion Partner of JAK2 in Myeloid/Lymphoid Neoplasm With Eosinophilia Responding to JAK2 Inhibition.

Lazarevic V et al.

Genes, Chromosomes & Cancer, 2024

Identification of a putative molecular subtype of adult-type diffuse astrocytoma with recurrent MAPK pathway alterations.

Sievers P et al.

Acta Neuropathologica, 2024

39026106 (PubMed )
Supplement: 401_2024_2766_MOESM1_ESM.xlsx › Supplementary_Table_3

On the Boundary of Exploratory Genomics and Translation in Sequential Glioblastoma.

Tompa M et al.

International Journal of Molecular Sciences, 2024

39062807 (PubMed )
Supplement: ijms-25-07564-s001.zip › Supplementary_Tables.xlsx › Supplementary_Table_S3

Multi-scale signaling and tumor evolution in high-grade gliomas.

Liu J et al.

Cancer Cell, 2024

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