CFTR c.2119T>G ;(p.S707A)

Variant ID: 7-117232340-T-G

NM_000492.3(CFTR):c.2119T>G;(p.S707A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Changes in the R-region interactions depend on phosphorylation and contribute to PKA and PKC regulation of the cystic fibrosis transmembrane conductance regulator chloride channel.

Faseb Bioadvances
Poroca, Diogo R DR; Amer, Noha N; Li, Audrey A; Hanrahan, John W JW; Chappe, Valerie M VM
Publication Date: 2020-01

Variant appearance in text: CFTR: S707A
PubMed Link: 32123855
Variant Present in the following documents:
  • Main text
  • FBA2-2-33.pdf
View BVdb publication page



Stimulatory and inhibitory protein kinase C consensus sequences regulate the cystic fibrosis transmembrane conductance regulator.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Chappe, Valerie V; Hinkson, Deborah A DA; Howell, L Daniel LD; Evagelidis, Alexandra A; Liao, Jie J; Chang, Xiu-Bao XB; Riordan, John R JR; Hanrahan, John W JW
Publication Date: 2004-01-06

Variant appearance in text: CFTR: S707A
PubMed Link: 14695900
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phosphorylation of protein kinase C sites in NBD1 and the R domain control CFTR channel activation by PKA.

The Journal Of Physiology
Chappe, V V; Hinkson, D A DA; Zhu, T T; Chang, X-B XB; Riordan, J R JR; Hanrahan, J W JW
Publication Date: 2003-04-01

Variant appearance in text: CFTR: S707A
PubMed Link: 12588899
Variant Present in the following documents:
  • Main text
View BVdb publication page