CFTR c.2499T>A ;(p.F833L)

Variant ID: 7-117234992-T-A

NM_000492.3(CFTR):c.2499T>A;(p.F833L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Synergy of cAMP and calcium signaling pathways in CFTR regulation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Bozoky, Zoltan Z; Ahmadi, Saumel S; Milman, Tal T; Kim, Tae Hun TH; Du, Kai K; Di Paola, Michelle M; Pasyk, Stan S; Pekhletski, Roman R; Keller, Jacob P JP; Bear, Christine E CE; Forman-Kay, Julie D JD
Publication Date: 2017-03-14

Variant appearance in text: CFTR: F833L
PubMed Link: 28242698
Variant Present in the following documents:
  • Main text
  • pnas.201613546.pdf
View BVdb publication page



Regulatory R region of the CFTR chloride channel is a dynamic integrator of phospho-dependent intra- and intermolecular interactions.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Bozoky, Zoltan Z; Krzeminski, Mickael M; Muhandiram, Ranjith R; Birtley, James R JR; Al-Zahrani, Ateeq A; Thomas, Philip J PJ; Frizzell, Raymond A RA; Ford, Robert C RC; Forman-Kay, Julie D JD
Publication Date: 2013-11-19

Variant appearance in text: CFTR: F833L
PubMed Link: 24191035
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phosphorylation-dependent 14-3-3 protein interactions regulate CFTR biogenesis.

Molecular Biology Of The Cell
Liang, Xiubin X; Da Paula, Ana Carina AC; Bozóky, Zoltán Z; Zhang, Hui H; Bertrand, Carol A CA; Peters, Kathryn W KW; Forman-Kay, Julie D JD; Frizzell, Raymond A RA
Publication Date: 2012-03

Variant appearance in text: CFTR: F833L
PubMed Link: 22278744
Variant Present in the following documents:
  • Main text
  • 996.pdf
View BVdb publication page