Varaico: Literature-Extracted Genetic Variants

Gene:MAP2K1
Variant:p.K57N
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MAP2K1

NM_002755.4:p.K57N

Associated Papers

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

Duminuco A et al.

American Journal of Hematology, 2026

RAF-independent MEK mutations drive refractory histiocytic neoplasms but respond to ERK inhibition.

Diamond EL et al.

Cancer Cell, 2026

Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.

Brown JR et al.

Blood, 2026

41055698 (PubMed )
Supplement: BLOOD_BLD-2024-027009-mmc6.xlsx › Sheet_1

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

Detection of targetable genetic alterations in SMARCA4-deficient neoplasms of the lung - further evidence of a relationship between SMARCA4-deficient undifferentiated tumor and non-small cell carcinoma.

D'Ambrosio D et al.

Human Pathology, 2026

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

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

Clinical utility of liquid biopsy next-generation sequencing for advanced non-small cell lung cancer in the Netherlands.

de Bitter TJJ et al.

Scientific Reports, 2025

40830613 (PubMed )
Supplement: 41598_2025_13667_MOESM2_ESM.xlsx › Supplementary_Table_3

Mutational Analysis of Early, Low-Grade Bowel Polyps Defines a Subgroup with Concurrent, High-Risk Oncogenic Drivers Independent of Polyp Size.

Li J et al.

Cancer Research Communications, 2025

A comprehensive database for identifying and interpreting ctDNA driver genes and variants in cancer.

Wang Y et al.

Scientific Data, 2025

40670358 (PubMed )
Supplement: 41597_2025_5550_MOESM1_ESM.xls › Table_S5

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

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

An endothelial specific mouse model for the capillary malformation mutation Gnaq p.R183Q.

Smits P et al.

Angiogenesis, 2025

Genomic landscape of clinically acquired resistance alterations in patients treated with KRASG12C inhibitors.

Riedl JM et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2025

Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.

Jha P et al.

The Journal of Liquid Biopsy, 2025

40503459 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2

Ligand-activated EGFR/MAPK signaling but not PI3K, are key resistance mechanisms to EGFR-therapy in colorectal cancer.

Qu X et al.

Nature Communications, 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

Comprehensive Genomic Profiling of Indian Patients With Lung Cancer.

Sharma S et al.

Jco Global Oncology, 2025

40324118 (PubMed )
Supplement: DS1_GO-24-00587.pdf

Driver mutations in myeloid and lymphoid cells point to multipotent progenitor origin of diverse histiocytic neoplasms.

van Halteren AGS et al.

Blood Neoplasia, 2025

Persistent postremission clonal hematopoiesis shapes the relapse trajectories of acute myeloid leukemia.

Chow RD et al.

Blood Advances, 2025

39938015 (PubMed )
Supplement: BLOODA_ADV-2024-015149-mmc2.xlsx › S2

Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.

George SL et al.

Cancer Discovery, 2025

39693475 (PubMed )
Supplement: cd-24-0916_supplementary_table_5_suppst5.xlsx › Sheet1

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

From bench to bedside: murine models of inherited and sporadic brain arteriovenous malformations.

Ricciardelli AR et al.

Angiogenesis, 2025

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

Bhattacharyya T

Jbmr Plus, 2025

Clinical Validation of Local Versus Commercial Genomic Testing in Cancer: A Comparison of Tissue and Plasma Concordance.

Faulkner LG et al.

Cancer Investigation, 2025

Targeted therapy guided by circulating tumor DNA analysis in advanced gastrointestinal tumors.

Nakamura Y et al.

Nature Medicine, 2025

39284955 (PubMed )
Supplement: 41591_2024_3244_MOESM2_ESM.xlsx › Suppementary_Table_1

RNA-Based Next-Generation Sequencing Approach to Non-Small Cell Lung Cancer: A Single-Center Experience in Turkey.

Gorukmez O et al.

Human Heredity, 2025

The mutational landscape and actionable targets of gallbladder cancer: an ancestry-informed and comparative analysis of a Chilean population.

Erices JI et al.

Frontiers in Oncology, 2025

Navigating Therapeutic Challenges in BRAF-Mutated NSCLC: Non-V600 Mutations, Immunotherapy, and Overcoming Resistance.

Bortolot M et al.

International Journal of Molecular Sciences, 2024

Cerebral vascular malformations: pathogenesis and therapy.

He Q et al.

Medcomm, 2024

Navigating the complexity of BRAF mutations in non-small cell lung cancer: current insights and future prospects.

Ibrahim S et al.

Multidisciplinary Respiratory Medicine, 2024

KRAS G12C mutation in NSCLC in a small genetic center: insights into sotorasib therapy response potential.

Eser M et al.

Scientific Reports, 2024

Expert consensus on the diagnosis and treatment of solid tumors with BRAF mutations.

Wang W et al.

Innovation (cambridge (mass.)), 2024

Intramuscular hemangioma capillary type with HRAS mutation: Expanding the molecular genetic spectrum with an emphasis on overlap with arteriovenous malformations and distinct from infantile hemangioma.

Xue S et al.

Human Pathology, 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

Inflammatory Giant Cell Carcinoma of the Lung: Clinicopathologic, Immunohistochemical, and Next-generation Sequencing Study of 14 Cases.

Suster DI et al.

The American Journal of Surgical Pathology, 2024

GLI1 confers resistance to PARP inhibitors by activating the DNA damage repair pathway.

Ikeuchi H et al.

Oncogene, 2024

Early drivers of clonal hematopoiesis shape the evolutionary trajectories of de novo acute myeloid leukemia.

Chow RD et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39252918 (PubMed )
Supplement: media-1.xlsx › S1
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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."