CFTR c.1009_1010delinsGC ;(p.F337A)

Variant ID: 7-117180293-TT-GC

NM_000492.3(CFTR):c.1009_1010delinsGC;(p.F337A)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Molecular dynamics study of Cl- permeation through cystic fibrosis transmembrane conductance regulator (CFTR).

Cellular And Molecular Life Sciences : Cmls
Zeng, Zhi Wei ZW; Linsdell, Paul P; Pomès, Régis R
Publication Date: 2023-01-24

Variant appearance in text: CFTR: F337A
PubMed Link: 36694009
Variant Present in the following documents:
  • Main text
  • 18_2022_Article_4621.pdf
View BVdb publication page



Molecular mechanisms of cystic fibrosis - how mutations lead to misfunction and guide therapy.

Bioscience Reports
Farinha, Carlos M CM; Callebaut, Isabelle I
Publication Date: 2022-07-29

Variant appearance in text: CFTR: F337A
PubMed Link: 35707985
Variant Present in the following documents:
  • Main text
  • bsr-42-bsr20212006.pdf
View BVdb publication page



Long-range coupling between the extracellular gates and the intracellular ATP binding domains of multidrug resistance protein pumps and cystic fibrosis transmembrane conductance regulator channels.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Wei, Shipeng S; Roessler, Bryan C BC; Icyuz, Mert M; Chauvet, Sylvain S; Tao, Binli B; Hartman, John L JL; Kirk, Kevin L KL
Publication Date: 2016-03

Variant appearance in text: CFTR: F337A
PubMed Link: 26606940
Variant Present in the following documents:
  • Main text
View BVdb publication page



Divergent CFTR orthologs respond differently to the channel inhibitors CFTRinh-172, glibenclamide, and GlyH-101.

American Journal Of Physiology. Cell Physiology
Stahl, Maximilian M; Stahl, Klaus K; Brubacher, Marie B MB; Forrest, John N JN
Publication Date: 2012-01-01

Variant appearance in text: CFTR: F337A
PubMed Link: 21940661
Variant Present in the following documents:
  • Main text
View BVdb publication page



Determinants of anion permeation in the second transmembrane domain of the mouse bestrophin-2 chloride channel.

The Journal Of General Physiology
Qu, Zhiqiang Z; Hartzell, Criss C
Publication Date: 2004-10

Variant appearance in text: CFTR: F337A
PubMed Link: 15452198
Variant Present in the following documents:
  • Main text
  • 200409108.pdf
View BVdb publication page



Mutation-induced blocker permeability and multiion block of the CFTR chloride channel pore.

The Journal Of General Physiology
Gong, Xiandi X; Linsdell, Paul P
Publication Date: 2003-12

Variant appearance in text: CFTR: F337A
PubMed Link: 14610019
Variant Present in the following documents:
  • Main text
View BVdb publication page



Relationship between anion binding and anion permeability revealed by mutagenesis within the cystic fibrosis transmembrane conductance regulator chloride channel pore.

The Journal Of Physiology
Linsdell, P P
Publication Date: 2001-02-15

Variant appearance in text: CFTR: F337A
PubMed Link: 11179391
Variant Present in the following documents:
  • Main text
View BVdb publication page