Varaico: Literature-Extracted Genetic Variants

Gene:MAP2K1
Variant:p.G128V
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MAP2K1

NM_002755.4:p.G128V

Associated Papers

Resistance Mutation Profiles Associated with Current Treatments for Epidermal Growth Factor Receptor-Mutated Non-Small-Cell Lung Cancer in the United States: A Systematic Literature Review.

Vadagam P et al.

Current Oncology (toronto, Ont.), 2025

40277748 (PubMed )
Supplement: curroncol-32-00191-s001.zip › curroncol-3409061-supplementary.pdf

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

Di Majo BE et al.

Frontiers in Immunology, 2025

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

A Literature Review and Pooled Case Analysis of Cardiofaciocutaneous Syndrome to Estimate Cancer Risk.

Bess J et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.

Feng B et al.

Orphanet Journal of Rare Diseases, 2023

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

High-Throughput Functional Evaluation of MAP2K1 Variants in Cancer.

Mizuno S et al.

Molecular Cancer Therapeutics, 2023

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.

Kenney-Jung DL et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022

Mechanisms of Resistance to First-Line Osimertinib in Hispanic Patients With EGFR Mutant Non-Small Cell Lung Cancer (FRESTON-CLICaP).

Cardona AF et al.

Clinical Lung Cancer, 2022

Genomic Landscape of RTK/RAS Pathway and Tumor Immune Infiltration as Prognostic Indicator of Lung Adenocarcinoma.

Yin XQ et al.

Frontiers in Oncology, 2022

35936718 (PubMed )
Supplement: Table_4.xlsx › MAF_infomation

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc4.xlsx › A__TCGA_hotspots

Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Zhang W et al.

Bmc Cancer, 2020

32736575 (PubMed )
Supplement: 12885_2020_7198_MOESM5_ESM.xlsx › Table_S3

Swimming toward solutions: Using fish and frogs as models for understanding RASopathies.

Patterson VL et al.

Birth Defects Research, 2020

Secondary Resistant Mutations to Small Molecule Inhibitors in Cancer Cells.

Hamid AB et al.

Cancers, 2020

Cardio-facio-cutaneous syndrome-associated pathogenic MAP2K1 variants activate autophagy.

Chen J et al.

Gene, 2020

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Resistance-no-BCR-ABL1

Clinical resistance associated with a novel MAP2K1 mutation in a patient with Langerhans cell histiocytosis.

Azorsa DO et al.

Pediatric Blood & Cancer, 2018

Integrative omics analyses broaden treatment targets in human cancer.

Sengupta S et al.

Genome Medicine, 2018

30053901 (PubMed )
Supplement: 13073_2018_564_MOESM2_ESM.xlsx › 13

Investigating Novel Resistance Mechanisms to Third-Generation EGFR Tyrosine Kinase Inhibitor Osimertinib in Non-Small Cell Lung Cancer Patients.

Yang Z et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018

Somatic activating mutations in MAP2K1 cause melorheostosis.

Kang H et al.

Nature Communications, 2018

Molecular Screening for Cancer Treatment Optimization (MOSCATO-01) in Pediatric Patients: A Single-Institutional Prospective Molecular Stratification Trial.

Harttrampf AC et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

Activated MEK cooperates with Cdkn2a and Pten loss to promote the development and maintenance of melanoma.

Yang H et al.

Oncogene, 2017

Prospective Comprehensive Molecular Characterization of Lung Adenocarcinomas for Efficient Patient Matching to Approved and Emerging Therapies.

Jordan EJ et al.

Cancer Discovery, 2017

Divergent effects of intrinsically active MEK variants on developmental Ras signaling.

Goyal Y et al.

Nature Genetics, 2017

Real-time genomic profiling of histiocytoses identifies early-kinase domain BRAF alterations while improving treatment outcomes.

Lee LH et al.

Jci Insight, 2017

Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder.

Hakami F et al.

Prenatal Diagnosis, 2016

MAP2K1 and MAP3K1 mutations in Langerhans cell histiocytosis.

Nelson DS et al.

Genes, Chromosomes & Cancer, 2015

A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.

Nishi E et al.

American Journal of Medical Genetics. Part A, 2015

High prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis.

Brown NA et al.

Blood, 2014

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

The genetic landscape of clinical resistance to RAF inhibition in metastatic melanoma.

Van Allen EM et al.

Cancer Discovery, 2014

MAP kinase pathway alterations in BRAF-mutant melanoma patients with acquired resistance to combined RAF/MEK inhibition.

Wagle N et al.

Cancer Discovery, 2014

Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review.

Adachi M et al.

Seizure, 2012

Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.

Siegel DH et al.

The British Journal of Dermatology, 2011

Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.

Anastasaki C et al.

Human Molecular Genetics, 2009

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.

Dentici ML et al.

European Journal of Human Genetics : Ejhg, 2009

Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma.

Marks JL et al.

Cancer Research, 2008

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

Schulz AL et al.

Clinical 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

Neurological complications of cardio-facio-cutaneous syndrome.

Yoon G et al.

Developmental Medicine and Child Neurology, 2007

MEK1 gene mutation in Japanese lung adenocarcinoma patients.

Sasaki H et al.

Molecular Medicine Reports, 0

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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."