CFTR c.400_401delinsCA ;(p.R134Q)

Variant ID: 7-117171079-AG-CA

NM_000492.3(CFTR):c.400_401delinsCA;(p.R134Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Functionally additive fixed positive and negative charges in the CFTR channel pore control anion binding and conductance.

The Journal Of Biological Chemistry
Linsdell, Paul P; Irving, Christina L CL; Cowley, Elizabeth A EA
Publication Date: 2022-03

Variant appearance in text: CFTR: R134Q
PubMed Link: 35101441
Variant Present in the following documents:
  • Main text
  • main.pdf
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: R134Q
PubMed Link: 17043152
Variant Present in the following documents:
  • Main text
  • jgp1280535.pdf
View BVdb publication page