Varaico: Literature-Extracted Genetic Variants

Gene:MAP2K1
Variant:p.P124L
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MAP2K1

NM_002755.4:p.P124L

Associated Papers

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

Diamond EL et al.

Cancer Cell, 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

High Prevalence of Potential Molecular Therapeutic Targets in Poorly Differentiated Thyroid Carcinoma.

Zambelli V et al.

Endocrine Pathology, 2025

41123735 (PubMed )
Supplement: 12022_2025_9883_MOESM4_ESM.xlsx › Foglio1

Plasma cfDNA analysis of alectinib resistance-related gene alterations in the J-ALEX study.

Sakaguchi H et al.

Esmo Open, 2025

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

Cosci I et al.

Pharmaceuticals (basel, Switzerland), 2025

Comprehensive Genomic Profiles of Melanoma in Veterans Compared to Reference Databases.

Mettman D et al.

Federal Practitioner : for the Health Care Professionals of the Va, Dod, and Phs, 2025

Computational modeling of human genetic variants in mice.

Dong K et al.

Biorxiv : the Preprint Server for Biology, 2025

40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_9_SMARCA2_4_and_Paralogous_Library.xlsx › Sheet2_Double-hit_BE_Lib

Langerhans Cell Histiocytosis With MAP2K1E102_I103del Mutation Successfully Treated With Trametinib.

Lang M et al.

Ejhaem, 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

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

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

Ebbelaar CF et al.

Ebiomedicine, 2025

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

Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.

Lan X et al.

Jama Network Open, 2025

40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1

Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 -related RASopathy.

Grange DK et al.

American Journal of Medical Genetics. Part A, 2025

Clinical Activity of Mitogen-Activated Protein Kinase Inhibitors in Patients With MAP2K1 (MEK1)-Mutated Metastatic Cancers.

Dankner M et al.

Jco Precision Oncology, 2025

Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.

Di Majo BE et al.

Frontiers in Immunology, 2025

40692796 (PubMed )
Supplement: Table1.xlsx › Foglio1

Molecular and Clinical Determinants of Acquired Resistance and Treatment Duration for Targeted Therapies in Colorectal Cancer.

Harrold E et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

Resolving Discrepancies in Idylla BRAF Mutational Assay Results Using Targeted Next-Generation Sequencing.

George GV et al.

Genes, 2024

A multiparameter liquid biopsy approach allows to track melanoma dynamics and identify early treatment resistance.

Scaini MC et al.

Npj Precision Oncology, 2024

Clinical, Morphological and Molecular Features of Spitz tumors.

Donati M et al.

Ceskoslovenska Patologie, 2024

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

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Suppl._Table_6

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

37579140 (PubMed )
Supplement: pnas.2304184120.sapp.pdf

Response and Resistance to Trametinib in MAP2K1-Mutant Triple-Negative Melanoma.

Krebs FS et al.

International Journal of Molecular Sciences, 2023

High-Throughput Functional Evaluation of MAP2K1 Variants in Cancer.

Mizuno S et al.

Molecular Cancer Therapeutics, 2023

Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Vormittag-Nocito E et al.

Cancer Medicine, 2023

Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Álvarez-Prado ÁF et al.

Cell Reports. Medicine, 2023

36652909 (PubMed )
Supplement: mmc4.xlsx › BrM_Val14

RAF-MEK-ERK pathway in cancer evolution and treatment.

Ullah R et al.

Seminars in Cancer Biology, 2022

Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil.

Pereira JZ et al.

Molecular Biology Reports, 2022

Molecular Divergence upon EGFR-TKI Resistance Could Be Dependent on the Exon Location of the Original EGFR-Sensitizing Mutation.

Serna-Blasco R et al.

Cancers, 2022

Investigating the Retained Inhibitory Effect of Cobimetinib against p.P124L Mutated MEK1: A Combined Liquid Biopsy and in Silico Approach.

Catoni C et al.

Cancers, 2022

Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.

Caswell RC et al.

Genome Medicine, 2022

Qualitative differences in disease-associated MEK mutants reveal molecular signatures and aberrant signaling-crosstalk in cancer.

Kubota Y et al.

Nature Communications, 2022

Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Wang T et al.

Ebiomedicine, 2022

35665681 (PubMed )
Supplement: mmc24.xlsx › Sheet1

Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.

Garcia-Prieto CA et al.

Bioinformatics (oxford, England), 2022

35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_8.xlsx › Sheet1

Somatic mutational landscape of extracranial arteriovenous malformations and phenotypic correlations.

El Sissy FN et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022

Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.

Chevrier S et al.

International Journal of Molecular Medicine, 2022

35244186 (PubMed )
Supplement: Supplementary_Data2.xlsx › Feuil1

Utility of Select Gene Mutation Detection in Tumors by the Idylla Rapid Multiplex PCR Platform in Comparison to Next-Generation Sequencing.

Nkosi D et al.

Genes, 2022

35627184 (PubMed )
Supplement: genes-13-00799-s001.zip › genes-1613678-supplementary.pdf

Late moyamoya-like angiopathy syndrome revealing MAP2K1 Noonan syndrome.

Méreaux JL et al.

Revue Neurologique, 2022

Analysis of genetic variants in myeloproliferative neoplasms using a 22-gene next-generation sequencing panel.

Tan J et al.

Bmc Medical Genomics, 2022

35033063 (PubMed )
Supplement: 12920_2021_1145_MOESM3_ESM.pdf

The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Karachaliou GS et al.

Bmc Cancer, 2022

34986841 (PubMed )
Supplement: 12885_2021_8908_MOESM2_ESM.xlsx › APC_CTNNB1_wild_type

Analytical and clinical validation of an amplicon-based next generation sequencing assay for ultrasensitive detection of circulating tumor DNA.

Poh J et al.

Plos One, 2022

35486650 (PubMed )
Supplement: pone.0267389.s008.xlsx › S1_Table

Anchored Multiplex PCR Custom Melanoma Next Generation Sequencing Panel for Analysis of Circulating Tumor DNA.

Diefenbach RJ et al.

Frontiers in Oncology, 2022

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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."