Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E504D
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CFTR

NM_000492.4:p.E504D

Associated Papers

Prime Editing Modification with FEN1 Improves F508del Variant Editing in the CFTR Gene in Airway Basal Cells.

Volodina OV et al.

International Journal of Molecular Sciences, 2025

The conserved glutamate residue adjacent to the Walker-B motif is the catalytic base for ATP hydrolysis in the ATP-binding cassette transporter BmrA.

Orelle C et al.

The Journal of Biological Chemistry, 2003

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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."