Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.E82D
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NFE2L2

NM_006164.5:p.E82D

Associated Papers

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc4.xlsx › Table_S10B

Oncogenic NFE2L2 mutations in plasma ctDNA and tumors are predictors and prognosticators of chemoradiation therapy in resectable esophageal squamous cell carcinoma.

Ko JM et al.

British Journal of Cancer, 2025

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

Xiong D et al.

Nature Biotechnology, 2025

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

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: mmc3.xlsx › All

Unveiling immunogenic characteristics and neoantigens in endometrial cancer with POLE hotspot mutations for improved immunotherapy.

Huang J et al.

Frontiers in Immunology, 2025

39931062 (PubMed )
Supplement: Table1.xlsx › Sheet1

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

Assessment of TP53 and CDKN2A status as predictive markers of malignant transformation of sinonasal inverted papilloma.

Kwon S et al.

Scientific Reports, 2024

38902320 (PubMed )
Supplement: 41598_2024_64901_MOESM1_ESM.xlsx › SCC

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

Ngo HKC et al.

Journal of Cancer Prevention, 2023

Response to selpercatinib in a patient with RET fusion-positive pulmonary large-cell neuroendocrine carcinoma: A case report.

Arora A et al.

Frontiers in Oncology, 2023

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

Genomic landscape of advanced endometrial cancer analyzed by targeted next-generation sequencing and the cancer genome atlas (TCGA) dataset.

Hong JH et al.

Journal of Gynecologic Oncology, 2022

35128859 (PubMed )
Supplement: jgo-33-e29-s002.xls › jgo-33-e29-s002

Histological and molecular plasticity of ALK-positive non-small-cell lung cancer under targeted therapy: a case report.

Ball M et al.

Cold Spring Harbor Molecular Case Studies, 2022

Discrimination Between Primary Lung Cancer and Lung Metastases by Genomic Profiling.

Higuchi R et al.

Jto Clinical and Research Reports, 2021

34877557 (PubMed )
Supplement: mmc2.pdf

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

Genomic profile of advanced breast cancer in circulating tumour DNA.

Kingston B et al.

Nature Communications, 2021

33893289 (PubMed )
Supplement: 41467_2021_22605_MOESM4_ESM.xlsx › SNVs_Indels

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

Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Cobain EF et al.

Jama Oncology, 2021

33630025 (PubMed )
Supplement: jamaoncol-e207987-s004.xlsx › Table

Genomic Signature of Oral Squamous Cell Carcinomas from Non-Smoking Non-Drinking Patients.

Koo K et al.

Cancers, 2021

33804510 (PubMed )
Supplement: cancers-13-01029-s001.zip › Supplementary_Data.xlsx › Somatic_mutations

Comprehensive characterization of protein-protein interactions perturbed by disease mutations.

Cheng F et al.

Nature Genetics, 2021

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

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc4.xlsx › A__TCGA_hotspots

A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Kang T et al.

Breast Cancer Research : Bcr, 2020

32736587 (PubMed )
Supplement: 13058_2020_1322_MOESM3_ESM.xlsx › All_Calls

Metachronous primary lung adenocarcinomas harboring distinct KRAS mutations.

Hu Y et al.

Thoracic Cancer, 2020

Inhibition of TXNRD or SOD1 overcomes NRF2-mediated resistance to β-lapachone.

Torrente L et al.

Redox Biology, 2020

32007910 (PubMed )
Supplement: mmc3.xlsx › Table_2_LuAD

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM3_ESM.xlsx › Sheet1

Immunogenicity and Immune Silence in Human Cancer.

Yarmarkovich M et al.

Frontiers in Immunology, 2020

32256484 (PubMed )
Supplement: Table_4.XLSX › TCGA_HLAs_and_mutations

Functional Genomic Complexity Defines Intratumor Heterogeneity and Tumor Aggressiveness in Liver Cancer.

Kwon SM et al.

Scientific Reports, 2019

31729408 (PubMed )
Supplement: 41598_2019_52578_MOESM2_ESM.pdf

PIDD interaction with KEAP1 as a new mutation-independent mechanism to promote NRF2 stabilization and chemoresistance in NSCLC.

Ji L et al.

Scientific Reports, 2019

31455821 (PubMed )
Supplement: 41598_2019_48763_MOESM2_ESM.xlsx › B._Alteration_types_

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

The NRF2 transcriptional target NQO1 has low mRNA levels in TP53-mutated endometrial carcinomas.

Beinse G et al.

Plos One, 2019

A catalogue of somatic NRF2 gain-of-function mutations in cancer.

Kerins MJ et al.

Scientific Reports, 2018

30150714 (PubMed )
Supplement: 41598_2018_31281_MOESM3_ESM.xlsx › table1lungmuts

KEAP1/NRF2 signaling pathway mutations in cervical cancer.

Chu XY et al.

European Review for Medical and Pharmacological Sciences, 2018

Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Chen F et al.

Nature Communications, 2017

28775315 (PubMed )
Supplement: 41467_2017_289_MOESM7_ESM.xlsx › mutation_data

Aldo-keto reductases are biomarkers of NRF2 activity and are co-ordinately overexpressed in non-small cell lung cancer.

MacLeod AK et al.

British Journal of Cancer, 2016

27824809 (PubMed )
Supplement: bjc2016363x1.docx

Spatial intratumoral heterogeneity and temporal clonal evolution in esophageal squamous cell carcinoma.

Hao JJ et al.

Nature Genetics, 2016

27749841 (PubMed )
Supplement: NIHMS814330-supplement-7.xlsx › Sheet1

Functional characterization of somatic mutations in cancer using network-based inference of protein activity.

Alvarez MJ et al.

Nature Genetics, 2016

27322546 (PubMed )
Supplement: NIHMS789775-supplement-1.pdf

Bioinformatics analysis of thousands of TCGA tumors to determine the involvement of epigenetic regulators in human cancer.

Gnad F et al.

Bmc Genomics, 2015

26110843 (PubMed )
Supplement: 1471-2164-16-S8-S5-S7.xls › RecurrentMutations

Cross-cancer profiling of molecular alterations within the human autophagy interaction network.

Lebovitz CB et al.

Autophagy, 2015

26208877 (PubMed )
Supplement: kaup-11-09-1067362-s001.zip › 1067362_supplemental_files › 2014AUTO0485R1-s03.xlsx › Summary-hotspot_mutations

Landscape of genomic alterations in cervical carcinomas.

Ojesina AI et al.

Nature, 2014

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Genomic structure and variation of nuclear factor (erythroid-derived 2)-like 2.

Cho HY

Oxidative Medicine and Cellular Longevity, 2013

NRF2 mutation confers malignant potential and resistance to chemoradiation therapy in advanced esophageal squamous cancer.

Shibata T et al.

Neoplasia (new York, N.y.), 2011

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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."