CFTR c.907_908delinsGA ;(p.R303E)

Variant ID: 7-117180191-AG-GA

NM_000492.3(CFTR):c.907_908delinsGA;(p.R303E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: R303E
PubMed Link: 29475947
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: R303E
PubMed Link: 17043152
Variant Present in the following documents:
  • Main text
  • jgp1280535.pdf
View BVdb publication page