Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.K44I
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NFE2L2

NM_006164.5:p.K44I

Associated Papers

Computational screening of pathogenic missense nsSNPs in heme oxygenase 1 (HMOX1) gene and their structural and functional consequences.

Yadav AK et al.

Journal of Biomolecular Structure & Dynamics, 2024

A novel uterine leiomyoma subtype exhibits NRF2 activation and mutations in genes associated with neddylation of the Cullin 3-RING E3 ligase.

Mehine M et al.

Oncogenesis, 2022

36068196 (PubMed )
Supplement: 41389_2022_425_MOESM2_ESM.xlsx › Supplementary_Table_1

A missense mutation in Pitx2 leads to early-onset glaucoma via NRF2-YAP1 axis.

Yang Y et al.

Cell Death & Disease, 2021

34716303 (PubMed )
Supplement: 41419_2021_4331_MOESM2_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."