Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.E79Q
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NFE2L2

NM_006164.5:p.E79Q

Associated Papers

PRIME: an interpretable artificial intelligence model based on liquid biopsy improves prediction of progression risk in non-small cell lung cancer.

Wang Y et al.

Military Medical Research, 2026

41491583 (PubMed )
Supplement: 40779_2025_679_MOESM1_ESM.xlsx › Table_S9

The PI3K pathway is a downstream effector of NRF2 activation in the esophagus.

Subramaniyan B et al.

Translational Oncology, 2026

Unraveling LINE-1 retrotransposition in head and neck squamous cell carcinoma.

Brea-Iglesias J et al.

Molecular Oncology, 2025

40465458 (PubMed )
Supplement: MOL2-19-3769-s001.xlsx › Table_S5

Comparative Analysis Reveals Recurrent Molecular Alterations in Low-Risk Human Papillomavirus 6 and Human Papillomavirus 11-Associated Squamous Cell Carcinoma of the Uterine Cervix and Vulva.

Sun Y et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

A structurally informed human protein-protein interactome reveals proteome-wide perturbations caused by disease mutations.

Xiong D et al.

Nature Biotechnology, 2025

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc2.xlsx › All

Activating NRF2E79Q mutation alters the differentiation of human non-small cell lung cancer.

Hamad S et al.

Research Square, 2025

Association between Locoregional Failure and NFE2L2/KEAP1/CUL3 Mutations in NRG/RTOG 9512: A Randomized Trial of Radiation Fractionation in T2N0 Glottic Cancer.

Guan L et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

Specific cancer types and prognosis in patients with variations in the KEAP1-NRF2 system: A retrospective cohort study.

Iwasaki T et al.

Cancer Science, 2024

Exploring Genomic Biomarkers for Pembrolizumab Response: A Real-World Approach and Patient Similarity Network Analysis Reveal DNA Response and Repair Gene Mutations as a Signature.

Filetti M et al.

Cancers, 2024

39682144 (PubMed )
Supplement: cancers-16-03955-s001.zip › Table_S4.xlsx › Table_S4

ctDNA Dynamics and Mechanisms of Acquired Resistance in Patients Treated with Osimertinib with or without Bevacizumab from the Randomized Phase II ETOP-BOOSTER Trial.

Soo RA et al.

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

The Impact of Genetic Mutations on the Efficacy of Immunotherapies in Lung Cancer.

Lui K et al.

International Journal of Molecular Sciences, 2024

Hallmarks of a genomically distinct subclass of head and neck cancer.

Muijlwijk T et al.

Nature Communications, 2024

39428388 (PubMed )
Supplement: 41467_2024_53390_MOESM4_ESM.xlsx › 3._List_of_all_somatic_variants

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

Ikeuchi H et al.

Oncogene, 2024

39095584 (PubMed )
Supplement: 41388_2024_3105_MOESM2_ESM.xlsx › Supplementary_Table_S6

Mutant Nrf2E79Q enhances the promotion and progression of a subset of oncogenic Ras keratinocytes and skin tumors.

Witherspoon JG et al.

Redox Biology, 2024

Genome-Wide CRISPR Screen Identifies KEAP1 Perturbation as a Vulnerability of ARID1A-Deficient Cells.

Fournier LA et al.

Cancers, 2024

Prevalence and Associations of Co-occurrence of NFE2L2 Mutations and Chromosome 3q26 Amplification in Lung Cancer.

Liu J et al.

Global Medical Genetics, 2024

38628662 (PubMed )
Supplement: 10-1055-s-0044-1786004-s2400018.pdf

Clinical relevance of somatic mutations in Chinese lung adenocarcinoma and their prognostic implications for survival.

Li T et al.

Cancer Medicine, 2024

38770632 (PubMed )
Supplement: CAM4-13-e7227-s001.xlsx › Table_S2

NRF2 Activation in Trp53;p16-deficient Mice Drives Oral Squamous Cell Carcinoma.

Hamad SH et al.

Cancer Research Communications, 2024

Genomic profiling of NSCLC tumors with the TruSight oncology 500 assay provides broad coverage of clinically actionable genomic alterations and detection of known and novel associations between genomic alterations, TMB, and PD-L1.

Wallen ZD et al.

Frontiers in Oncology, 2024

39664186 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2

Nrf2, A Target for Precision Oncology in Cancer Prognosis and Treatment.

Ngo HKC et al.

Journal of Cancer Prevention, 2023

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Distinct Nrf2 Signaling Thresholds Mediate Lung Tumor Initiation and Progression.

DeBlasi JM et al.

Cancer Research, 2023

Mutational profiling of Chinese patients with thyroid cancer.

Du Y et al.

Frontiers in Endocrinology, 2023

37465126 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_2

Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Boström M et al.

Nature Communications, 2022

36396655 (PubMed )
Supplement: 41467_2022_34746_MOESM10_ESM.xlsx › Supplementary_Data_7

APOBEC mutagenesis and selection for NFE2L2 contribute to the origin of lung squamous-cell carcinoma.

Cannataro VL et al.

Lung Cancer (amsterdam, Netherlands), 2022

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

TP53, CDKN2A/P16, and NFE2L2/NRF2 regulate the incidence of pure- and combined-small cell lung cancer in mice.

Hamad SH et al.

Oncogene, 2022

EMSY inhibits homologous recombination repair and the interferon response, promoting lung cancer immune evasion.

Marzio A et al.

Cell, 2022

Actionable Molecular Alterations Are Revealed in Majority of Advanced Non-Small Cell Lung Cancer Patients by Genomic Tumor Profiling at Progression after First Line Treatment.

Frank MS et al.

Cancers, 2021

35008297 (PubMed )
Supplement: cancers-14-00132-s001.zip › Supplementary_Table_S1.xlsx › Overview_ver2

CDKN2A loss-of-function predicts immunotherapy resistance in non-small cell lung cancer.

Gutiontov SI et al.

Scientific Reports, 2021

34625620 (PubMed )
Supplement: 41598_2021_99524_MOESM2_ESM.xlsx › Mutations

DEVOLUTION-A method for phylogenetic reconstruction of aneuploid cancers based on multiregional genotyping data.

Andersson N et al.

Communications Biology, 2021

34545199 (PubMed )
Supplement: 42003_2021_2637_MOESM2_ESM.pdf

TP53 mutations and CDKN2A mutations/deletions are highly recurrent molecular alterations in the malignant progression of sinonasal papillomas.

Brown NA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021

33203919 (PubMed )
Supplement: NIHMS1641219-supplement-1.xlsx › Supplemental_Table_1

Distinct mutational backgrounds and clonal architectures implicated prognostic discrepancies in small-cell carcinomas of the esophagus and lung.

Song Z et al.

Cell Death & Disease, 2021

33980813 (PubMed )
Supplement: 41419_2021_3754_MOESM2_ESM.xlsx › Table_S2

Spatially interacting phosphorylation sites and mutations in cancer.

Huang KL et al.

Nature Communications, 2021

33875650 (PubMed )
Supplement: 41467_2021_22481_MOESM4_ESM.xlsx › TableS6.RecurrenceClusters

Multiplex Detection of Clinically Relevant Mutations in Liquid Biopsies of Cancer Patients Using a Hybridization-Based Platform.

Giménez-Capitán A et al.

Clinical Chemistry, 2021

EGFR-Mutated Squamous Cell Lung Cancer and Its Association With Outcomes.

Jin R et al.

Frontiers in Oncology, 2021

34195081 (PubMed )
Supplement: Table_2.xlsx › EGFR-Mutant_SCC

Extreme value theory as a framework for understanding mutation frequency distribution in cancer genomes.

Tokutomi N et al.

Plos One, 2021

34424899 (PubMed )
Supplement: pone.0243595.s003.pdf

Longitudinal detection of somatic mutations in saliva and plasma for the surveillance of oral squamous cell carcinomas.

Cui Y et al.

Plos One, 2021

34478472 (PubMed )
Supplement: pone.0256979.s002.xlsx › TCGA-HNSC

Expression of transgenes enriched in rare codons is enhanced by the MAPK pathway.

Peterson J et al.

Scientific Reports, 2020

33335127 (PubMed )
Supplement: 41598_2020_78453_MOESM1_ESM.pdf

Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer.

Abdel-Wahab R et al.

Scientific Reports, 2020

33328484 (PubMed )
Supplement: 41598_2020_77939_MOESM1_ESM.xlsx › Sheet1
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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."