CFTR c.907_908delinsCA ;(p.R303Q)

Variant ID: 7-117180191-AG-CA

NM_000492.3(CFTR):c.907_908delinsCA;(p.R303Q)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Structural mechanisms of CFTR function and dysfunction.

The Journal Of General Physiology
Hwang, Tzyh-Chang TC; Yeh, Jiunn-Tyng JT; Zhang, Jingyao J; Yu, Ying-Chun YC; Yeh, Han-I HI; Destefano, Samantha S
Publication Date: 2018-04-02

Variant appearance in text: CFTR: R303Q
PubMed Link: 29581173
Variant Present in the following documents:
  • Main text
  • JGP_201711946.pdf
View BVdb publication page



Functional organization of cytoplasmic portals controlling access to the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel pore.

The Journal Of Biological Chemistry
Li, Man-Song MS; Cowley, Elizabeth A EA; El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2018-04-13

Variant appearance in text: CFTR: R303Q
PubMed Link: 29475947
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cystic fibrosis transmembrane conductance regulator chloride channel blockers: Pharmacological, biophysical and physiological relevance.

World Journal Of Biological Chemistry
Linsdell, Paul P
Publication Date: 2014-02-26

Variant appearance in text: CFTR: R303Q
PubMed Link: 24600512
Variant Present in the following documents:
  • Main text
View BVdb publication page



Positive charges at the intracellular mouth of the pore regulate anion conduction in the CFTR chloride channel.

The Journal Of General Physiology
Aubin, Chantal N St CN; Linsdell, Paul P
Publication Date: 2006-11

Variant appearance in text: CFTR: R303Q
PubMed Link: 17043152
Variant Present in the following documents:
  • Main text
  • jgp1280535.pdf
View BVdb publication page