CFTR c.2257_2258delinsGC ;(p.S753A)

Variant ID: 7-117232478-AG-GC

NM_000492.3(CFTR):c.2257_2258delinsGC;(p.S753A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Characterization and small-molecule stabilization of the multisite tandem binding between 14-3-3 and the R domain of CFTR.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Stevers, Loes M LM; Lam, Chan V CV; Leysen, Seppe F R SF; Meijer, Femke A FA; van Scheppingen, Daphne S DS; de Vries, Rens M J M RM; Carlile, Graeme W GW; Milroy, Lech G LG; Thomas, David Y DY; Brunsveld, Luc L; Ottmann, Christian C
Publication Date: 2016-03-01

Variant appearance in text: CFTR: S753A
PubMed Link: 26888287
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of tyrosine phosphorylation in the muscarinic activation of the cystic fibrosis transmembrane conductance regulator (CFTR).

The Journal Of Biological Chemistry
Billet, Arnaud A; Luo, Yishan Y; Balghi, Haouaria H; Hanrahan, John W JW
Publication Date: 2013-07-26

Variant appearance in text: CFTR: S753A
PubMed Link: 23760269
Variant Present in the following documents:
  • Main text
View BVdb publication page