Varaico: Literature-Extracted Genetic Variants

Gene:MAP2K1
Variant:p.F53C
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MAP2K1

NM_002755.4:p.F53C

Associated Papers

Pediatric Embryonal Rhabdomyosarcoma: An Integrated Study of Clinicopathological Features, Pan-cancer Targeted Next-generation Sequencing, and Chromosomal Microarray Analysis from a Single Institution.

Yang B et al.

Virchows Archiv : an International Journal of Pathology, 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

Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.

Haugh AM et al.

Cancers, 2024

38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1

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

Molecular and clinicopathologic characterization of pediatric histiocytoses.

Hélias-Rodzewicz Z et al.

American Journal of Hematology, 2023

Genomic profiling informs diagnoses and treatment in vascular anomalies.

Li D et al.

Nature Medicine, 2023

High-Throughput Functional Evaluation of MAP2K1 Variants in Cancer.

Mizuno S et al.

Molecular Cancer Therapeutics, 2023

A unifying hypothesis for PNMZL and PTFL: morphological variants with a common molecular profile.

Salmeron-Villalobos J et al.

Blood Advances, 2022

35609565 (PubMed )
Supplement: advancesADV2022007322-suppl1.pdf

Pan-cancer landscape of CD274 (PD-L1) rearrangements in 283,050 patient samples, its correlation with PD-L1 protein expression, and immunotherapy response.

Kelly AD et al.

Journal for Immunotherapy of Cancer, 2021

34815356 (PubMed )
Supplement: jitc-2021-003550supp001.pdf

Next-generation sequencing-guided molecular-targeted therapy and immunotherapy for biliary tract cancers.

Zhang W et al.

Cancer Immunology, Immunotherapy : Cii, 2021

Mutations in the RAS-BRAF-MAPK-ERK pathway define a specific subgroup of patients with adverse clinical features and provide new therapeutic options in chronic lymphocytic leukemia.

Giménez N et al.

Haematologica, 2019

Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

Clark TA et al.

The Journal of Molecular Diagnostics : Jmd, 2018

29936259 (PubMed )
Supplement: mmc12.xlsx › Table_S12

Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Kiel C et al.

Molecular Systems Biology, 2014

24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies

Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.

Senawong T et al.

Human Molecular Genetics, 2008

Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

Rodriguez-Viciana P et al.

Methods in Enzymology, 2008

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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."