Varaico: Literature-Extracted Genetic Variants

Gene:MAP2K1
Variant:p.R47Q
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MAP2K1

NM_002755.4:p.R47Q

Associated Papers

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

Diamond EL et al.

Cancer Cell, 2026

Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.

Sklenar M et al.

Molecular Medicine (cambridge, Mass.), 2025

40426046 (PubMed )
Supplement: 10020_2025_1262_MOESM1_ESM.docx

A Phase II trial of alternating osimertinib and gefitinib therapy in advanced EGFR-T790M positive non-small cell lung cancer: OSCILLATE.

Tan L et al.

Nature Communications, 2024

38418463 (PubMed )
Supplement: 41467_2024_46008_MOESM5_ESM.xlsx › Sheet1

Expanding Broad Molecular Reflex Testing in Non-Small Cell Lung Cancer to Squamous Histology.

Zacharias M et al.

Cancers, 2024

38473263 (PubMed )
Supplement: cancers-16-00903-s001.zip › TableS2.xlsx › Tabelle

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

Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Miller EM et al.

Bmc Medical Genomics, 2020

33256706 (PubMed )
Supplement: 12920_2020_824_MOESM5_ESM.xlsx › Sheet1

The extended spectrum of RAS-MAPK pathway mutations in colorectal cancer.

Costigan DC et al.

Genes, Chromosomes & Cancer, 2020

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

Temko D et al.

The Journal of Pathology, 2018

29604063 (PubMed )
Supplement: PATH-245-283-s022.xlsx › CRC.Drivers.Edited

Protein-structure-guided discovery of functional mutations across 19 cancer types.

Niu B et al.

Nature Genetics, 2016

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

Oncogenic MAP2K1 mutations in human epithelial tumors.

Choi YL et al.

Carcinogenesis, 2012

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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."