Varaico: Literature-Extracted Genetic Variants

Gene:KEAP1
Variant:p.R483H
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KEAP1

NM_203500.2:p.R483H

Associated Papers

Tracing the molecular route to progression in miRNA-biogenesis-defective thyroid lesions.

Chong AS et al.

Jci Insight, 2026

41657311 (PubMed )
Supplement: jciinsight-11-198338-s230.pdf

Nodule-Specific NRF2-Targeted Upregulation in Patients With KEAP1 Mutations and Familial Nontoxic Multinodular Goiter.

Nishihara E et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

KEAP1 mutations activate the NRF2 pathway to drive cell growth and migration, and attenuate drug response in thyroid cancer.

Bambach NE et al.

Frontiers in Oncology, 2025

41573641 (PubMed )
Supplement: Table2.xlsx › Sheet1

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

Mice Hypomorphic for Keap1, a Negative Regulator of the Nrf2 Antioxidant Response, Show Age-Dependent Diffuse Goiter with Elevated Thyrotropin Levels.

Ziros PG et al.

Thyroid : Official Journal of the American Thyroid Association, 2021

Identification of novel Nrf2/Keap1 pathway mutations in pediatric acute lymphoblastic leukemia.

Akın-Balı DF et al.

Pediatric Hematology and Oncology, 2020

Genetics of Thyroid Disorders.

Cortés JMR et al.

Folia Medica, 2019

Monitoring Tumor Burden in Response to FOLFIRINOX Chemotherapy Via Profiling Circulating Cell-Free DNA in Pancreatic Cancer.

Wei T et al.

Molecular Cancer Therapeutics, 2019

Keap1/Nrf2 Signaling: A New Player in Thyroid Pathophysiology and Thyroid Cancer.

Renaud CO et al.

Frontiers in Endocrinology, 2019

Drug-Sensitivity Screening and Genomic Characterization of 45 HPV-Negative Head and Neck Carcinoma Cell Lines for Novel Biomarkers of Drug Efficacy.

Lepikhova T et al.

Molecular Cancer Therapeutics, 2018

29970484 (PubMed )
Supplement: 15357163mct170733-sup-187271_3_supp_4755361_p8plbf.xlsx › Table_S5

Oncogenic mutations in KEAP1 disturbing inhibitory Nrf2-Keap1 interaction: Activation of antioxidative pathway in papillary thyroid carcinoma.

Danilovic DLS et al.

Head & Neck, 2018

A Novel Germline Mutation of KEAP1 (R483H) Associated with a Non-Toxic Multinodular Goiter.

Nishihara E et al.

Frontiers in Endocrinology, 2016

Whole Exome Sequencing Identifies Frequent Somatic Mutations in Cell-Cell Adhesion Genes in Chinese Patients with Lung Squamous Cell Carcinoma.

Li C et al.

Scientific Reports, 2015

26503331 (PubMed )
Supplement: srep14237-s4.xls › Sheet1

Activation of the NRF2 pathway and its impact on the prognosis of anaplastic glioma patients.

Kanamori M et al.

Neuro-oncology, 2015

Molecular mechanisms of the Keap1–Nrf2 pathway in stress response and cancer evolution.

Taguchi K et al.

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 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."