Varaico: Literature-Extracted Genetic Variants

Gene:KEAP1
Variant:p.R320Q
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KEAP1

NM_203500.2:p.R320Q

Associated Papers

The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.

Torrens L et al.

Nature Genetics, 2025

40164736 (PubMed )
Supplement: 41588_2025_2134_MOESM4_ESM.xlsx › Supplementary_Table_15

Pan-cancer analysis of biallelic inactivation in tumor suppressor genes identifies KEAP1 zygosity as a predictive biomarker in lung cancer.

Zucker M et al.

Cell, 2025

The theory of massively repeated evolution and full identifications of cancer-driving nucleotides (CDNs).

Zhang L et al.

Elife, 2024

39688960 (PubMed )
Supplement: elife-99340-supp1.xlsx › CDN.Missense.gnomad

Oncogenic KEAP1 mutations activate TRAF2-NFκB signaling to prevent apoptosis in lung cancer cells.

Deen AJ et al.

Redox Biology, 2024

Clinical perspectives on the value of testing for STK11 and KEAP1 mutations in advanced NSCLC.

Shiller M et al.

Frontiers in Oncology, 2024

39703851 (PubMed )
Supplement: DataSheet2.xlsx › Supplemental_data

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

Regulation of Cell Proliferation and Nrf2-Mediated Antioxidant Defense: Conservation of Keap1 Cysteines and Nrf2 Binding Site in the Context of the Evolution of KLHL Family.

Shilovsky GA et al.

Life (basel, Switzerland), 2023

Identification of a targetable KRAS-mutant epithelial population in non-small cell lung cancer.

Maroni G et al.

Communications Biology, 2021

33854168 (PubMed )
Supplement: 42003_2021_1897_MOESM4_ESM.xlsx › Oncopanel_Platform

KEAP1/NFE2L2 Mutations Predict Lung Cancer Radiation Resistance That Can Be Targeted by Glutaminase Inhibition.

Binkley MS et al.

Cancer Discovery, 2020

KEAP1 Mutations Drive Tumorigenesis by Suppressing SOX9 Ubiquitination and Degradation.

Shao N et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2020

Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.

Hong TH et al.

Journal for Immunotherapy of Cancer, 2020

33077514 (PubMed )
Supplement: jitc-2020-001199supp002.pdf

Exome sequencing identifies somatic mutations in novel driver genes in non-small cell lung cancer.

Zhang M et al.

Aging, 2020

32629428 (PubMed )
Supplement: aging-12-103500-s002..xlsx › Sheet1

Loss-of-function mutations in KEAP1 drive lung cancer progression via KEAP1/NRF2 pathway activation.

Gong M et al.

Cell Communication and Signaling : Ccs, 2020

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

Torrente L et al.

Redox Biology, 2020

32007910 (PubMed )
Supplement: mmc2.xlsx › Table_1_LuSCC

p62-Dependent Phase Separation of Patient-Derived KEAP1 Mutations and NRF2.

Cloer EW et al.

Molecular and Cellular Biology, 2018

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 › LUSC-mutations

Transcriptome meta-analysis of lung cancer reveals recurrent aberrations in NRG1 and Hippo pathway genes.

Dhanasekaran SM et al.

Nature Communications, 2014

25531467 (PubMed )
Supplement: NIHMS643650-supplement-1.pdf

Cancer-derived mutations in KEAP1 impair NRF2 degradation but not ubiquitination.

Hast BE et al.

Cancer Research, 2014

Association of keap1 and nrf2 genetic mutations and polymorphisms with endometrioid endometrial adenocarcinoma survival.

Wong TF et al.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 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."