CFTR c.2224_2226delinsGAG ;(p.S742E)

Variant ID: 7-117232445-TCT-GAG

NM_000492.3(CFTR):c.2224_2226delinsGAG;(p.S742E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


CLC anion channel regulatory phosphorylation and conserved signal transduction domains.

Biophysical Journal
Miyazaki, Hiroaki H; Yamada, Toshiki T; Parton, Angela A; Morrison, Rebecca R; Kim, Sunghoon S; Beth, Albert H AH; Strange, Kevin K
Publication Date: 2012-10-17

Variant appearance in text: CFTR: S742E
PubMed Link: 23083714
Variant Present in the following documents:
  • Main text
View BVdb publication page



Double the keys, double the control: coupled phosphorylation sites provide novel molecular targets for precise control of ion channel function. Focus on "Differential regulation of a CLC anion channel by SPAK kinase ortholog-mediated multisite phosphorylation".

American Journal Of Physiology. Cell Physiology
Duan, Dayue Darrel DD; Wang, Guangyu G
Publication Date: 2012-06-15

Variant appearance in text: CFTR: S742E
PubMed Link: 22496246
Variant Present in the following documents:
  • Main text
View BVdb publication page



Differential regulation of a CLC anion channel by SPAK kinase ortholog-mediated multisite phosphorylation.

American Journal Of Physiology. Cell Physiology
Miyazaki, Hiroaki H; Strange, Kevin K
Publication Date: 2012-06-15

Variant appearance in text: CFTR: S742E
PubMed Link: 22357738
Variant Present in the following documents:
  • Main text
View BVdb publication page