Varaico: Literature-Extracted Genetic Variants

Gene:NFE2
Variant:p.C283R
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NFE2

NM_001136023.3:p.C283R

Associated Papers

NFE2 Truncation Mutants Protect Wild-Type NFE2 from ITCH-Dependent Degradation.

Hoeness ME et al.

International Journal of Molecular Sciences, 2025

41465537 (PubMed )
Supplement: ijms-26-12112-s001.zip › ijms-4008989-supplementary.pdf

Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.

Jahn N et al.

Leukemia, 2022

35922444 (PubMed )
Supplement: 41375_2022_1650_MOESM2_ESM.xlsx › NGS_dataset

Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.

Simonetti G et al.

Leukemia, 2021

34193978 (PubMed )
Supplement: 41375_2021_1318_MOESM7_ESM.xlsx › S12-Variants

Altered NFE2 activity predisposes to leukemic transformation and myelosarcoma with AML-specific aberrations.

Jutzi JS et al.

Blood, 2019

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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."