Varaico: Literature-Extracted Genetic Variants

Gene:MAP2K1
Variant:p.Q56P
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MAP2K1

NM_002755.4:p.Q56P

Associated Papers

Classic Hairy Cell Leukemia With MAP2K1 Mutation: Diagnosis and Targeted Therapy.

Duminuco A et al.

American Journal of Hematology, 2026

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Genetic Drivers of Sensitivity or Resistance to RAS(ON) Multi-Selective Inhibitors in NRAS-Mutated Melanoma.

Foth M et al.

Biorxiv : the Preprint Server for Biology, 2025

Ultra-deep targeted next-generation sequencing with peripheral blood in patients with vascular malformations: a cohort of 40 patients.

Mitamura S et al.

Molecular Biology Reports, 2025

CDK4 inhibition reduces proliferation and mineralization in MAP2K1+ melorheostosis: opening a pathway to treatment.

Maity J et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025

Genomic Evaluation of Canine Prostatic Carcinomas as a Model for the Human Disease: or 'UC or not UC - that is the question'.

Thomas R et al.

Veterinary and Comparative Oncology, 2025

Exploring the Genetic Landscape of Primary Marginal Zone Lymphoma of the Urinary Bladder.

Balestri I et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Targeted Therapy in Pediatric Langerhans Cell Histiocytosis: Describing a Novel Strategy to Minimize Long-Term Exposure While Maintaining Efficacy.

Wojciechowska N et al.

Pediatric Blood & Cancer, 2025

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

Discovery of Novel RASGRF2 Fusions as a Therapeutic Target in Lung Adenocarcinoma of Never or Light Smokers.

Terashima Y et al.

Cancer Science, 2025

40734624 (PubMed )
Supplement: CAS-116-2868-s002.xlsx › Table_S3

Asymmetric coevolution of the MEK-ERK binding interface.

Persikov AV et al.

The Journal of Biological Chemistry, 2025

Molecular Basis of BRAF Inhibitor Resistance in Melanoma: A Systematic Review.

Cosci I et al.

Pharmaceuticals (basel, Switzerland), 2025

Pathogenic mechanism of extracranial arteriovenous malformations: insights from clinical, pathological, and genetic analyses.

Hirose K et al.

Virchows Archiv : an International Journal of Pathology, 2025

Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.

Mok JW et al.

Genome Research, 2025

40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1

Langerhans Cell Histiocytosis With MAP2K1E102_I103del Mutation Successfully Treated With Trametinib.

Lang M et al.

Ejhaem, 2025

Genotyping as Part of Routine Clinical Care-The Outcomes for a Large Paediatric Vascular Anomaly Cohort.

O'Sullivan S et al.

American Journal of Medical Genetics. Part A, 2025

Identification of Somatic Genetic Variants in Superficial Vascular Malformations by Liquid Biopsy in a Cohort of 88 Patients from a French Hospital.

El Sissy FN et al.

Molecular Diagnosis & Therapy, 2025

RAS Pathway Mutations and Therapeutics in Vascular Anomalies.

Alharbi S et al.

Pediatric Blood & Cancer, 2025

Effects of F53 hotspot mutations on the molecular dynamics of MEK1 protein and the binding of its FDA-approved inhibitors.

Vural BE et al.

International Journal of Biological Macromolecules, 2025

Clinical outcomes and genomic profiles of MAP2K1-mutated primary cutaneous melanocytic tumours.

Ebbelaar CF et al.

Ebiomedicine, 2025

40107205 (PubMed )
Supplement: mmc1.docx

Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.

Vasquez YA et al.

Npj Precision Oncology, 2025

40119139 (PubMed )
Supplement: 41698_2025_852_MOESM11_ESM.xlsx › Supplementary_Data_9

Multicenter In-House Evaluation of an Amplicon-Based Next-Generation Sequencing Panel for Comprehensive Molecular Profiling.

Jantus-Lewintre E et al.

Molecular Diagnosis & Therapy, 2025

39798063 (PubMed )
Supplement: 40291_2024_766_MOESM2_ESM.xlsx › S1c-Control_D_2_HD827

Molecular Mutations in Histiocytosis: A Comprehensive Survey of Genetic Alterations.

Pai P et al.

Molecular Biotechnology, 2025

Unraveling melorheostosis: insights into clinical features, diagnosis, and treatment.

Bhattacharyya T

Jbmr Plus, 2025

Selective utilization of circulating tumor DNA testing enables disease monitoring in endometrial and ovarian carcinomas.

Jamieson A et al.

Journal of Gynecologic Oncology, 2025

Beyond BRAFV600E: Investigating the Clinical and Genetic Spectrum of Langerhans Cell Histiocytosis in Children.

Tang X et al.

Cancer Medicine, 2024

Nuclear translocation of SIRT4 mediates deacetylation of U2AF2 to modulate renal fibrosis through alternative splicing-mediated upregulation of CCN2.

Yang G et al.

Elife, 2024

Super multiple primary lung cancers harbor high-frequency BRAF and low-frequency EGFR mutations in the MAPK pathway.

Li H et al.

Npj Precision Oncology, 2024

MEK Inhibition in the Treatment of Congenital Langerhans Cell Histiocytosis: A Case Report and Review of the Literature.

Wojciechowska N et al.

Journal of Pediatric Hematology/oncology, 2024

Comprehensive Genetic Profiling Reveals Frequent Alterations of Driver Genes on the X Chromosome in Extranodal NK/T-cell Lymphoma.

Ito Y et al.

Cancer Research, 2024

Mutations Detected in Real World Clinical Sequencing during BTK Inhibitor Treatment in CLL.

Brown J et al.

Research Square, 2024

Development, testing and validation of a targeted NGS-panel for the detection of actionable mutations in lung cancer (NSCLC) using anchored multiplex PCR technology in a multicentric setting.

Kumbrink J et al.

Pathology Oncology Research : Por, 2024

38605929 (PubMed )
Supplement: Table1.XLSX › Sup_Table_1_Comparison_details

Clinical, Morphological and Molecular Features of Spitz tumors.

Donati M et al.

Ceskoslovenska Patologie, 2024

Targeting the RAS/RAF/MAPK pathway for cancer therapy: from mechanism to clinical studies.

Bahar ME et al.

Signal Transduction and Targeted Therapy, 2023

Clinical, Morphologic, and Molecular Features of Benign and Intermediate-grade Melanocytic Tumors With Activating Mutations in MAP2K1.

Fumero-Velázquez M et al.

The American Journal of Surgical Pathology, 2023

VEGF Secretion Drives Bone Formation in Classical MAP2K1+ Melorheostosis.

Allbritton-King JD et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023

Circulating tumor DNA landscape and prognostic impact of acquired resistance to targeted therapies in cancer patients: a national center for precision medicine (PRISM) study.

Bayle A et al.

Molecular Cancer, 2023

37924050 (PubMed )
Supplement: 12943_2023_1878_MOESM3_ESM.xlsx › Feuil1

MEK inhibitors in cancer treatment: structural insights, regulation, recent advances and future perspectives.

Ram T et al.

Rsc Medicinal Chemistry, 2023

Molecular Analysis of Biliary Tract Cancers with the Custom 3' RACE-Based NGS Panel.

Mitiushkina NV et al.

Diagnostics (basel, Switzerland), 2023

37891989 (PubMed )
Supplement: diagnostics-13-03168-s001.zip › diagnostics-2617903-supplementary.pdf

Evolutionary history of MEK1 illuminates the nature of deleterious mutations.

Andrianova EP et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

Erdheim-Chester Disease: A Case Report of BRAF V600E-Negative, MAP2K1-Positive ECD Diagnosed by Blood Next-Generation Sequencing Assay and a Brief Literature Review.

Aggarwal A et al.

Oncology (williston Park, N.y.), 2023

High-depth next-generation sequencing panel testing in the evaluation of arteriovenous malformations.

Hernandez PV et al.

American Journal of Medical Genetics. Part A, 2023

Tracking and blocking interdependencies of cellular BRAF-MEK oncokinase activities.

Fleischmann J et al.

Pnas Nexus, 2023

Duvelisib Eliminates CLL B Cells, Impairs CLL-Supporting Cells, and Overcomes Ibrutinib Resistance in a Xenograft Model.

Chen SS et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

Success of Trametinib in the Treatment of Langerhans Cell Histiocytosis With Novel MAPK Pathway Mutations.

Orr K et al.

Journal of Pediatric Hematology/oncology, 2023

Molecular Tumor Boards: The Next Step towards Precision Therapy in Cancer Care.

Liu A et al.

Hematology Reports, 2023

37092519 (PubMed )
Supplement: hematolrep-15-00025-s001.zip › hematolrep-2176609-supplementary.pdf
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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."