Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.D47A
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CFTR

NM_000492.4:p.D47A

Associated Papers

The structures of protein kinase A in complex with CFTR: Mechanisms of phosphorylation and noncatalytic activation.

Fiedorczuk K et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

A conserved WXXE motif is an apical delivery determinant of ABC transporter C subfamily isoforms.

Haque MS et al.

Cell Structure and Function, 2023

The cancer-associated meprin β variant G32R provides an additional activation site and promotes cancer cell invasion.

Schäffler H et al.

Journal of Cell Science, 2019

Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners.

Gallati S et al.

Reproductive Biomedicine Online, 2009

A cluster of negative charges at the amino terminal tail of CFTR regulates ATP-dependent channel gating.

Fu J et al.

The Journal of Physiology, 2001

CFTR chloride channel regulation by an interdomain interaction.

Naren AP et al.

Science (new York, N.y.), 1999

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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."