Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E504D
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CFTR

NM_000492.4:p.E504D

Associated Papers

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."