Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.T421A
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CFTR

NM_000492.4:p.T421A

Associated Papers

A mutational approach to dissect the functional role of the putative CFTR "PTM-CODE".

D'Amore C et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2021

A posttranslational modification code for CFTR maturation is altered in cystic fibrosis.

Pankow S et al.

Science Signaling, 2019

Activation mechanisms for the cystic fibrosis transmembrane conductance regulator protein involve direct binding of cAMP.

Pereira MM et al.

The Biochemical Journal, 2007

Identification and partial characterization of a domain in CFTR that may bind cyclic nucleotides directly.

Sullivan SK et al.

Current Biology : Cb, 1995

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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."