CFTR c.1054_1055delinsAA ;(p.R352K)

Variant ID: 7-117180338-CG-AA

NM_000492.3(CFTR):c.1054_1055delinsAA;(p.R352K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Evolutionary and functional divergence between the cystic fibrosis transmembrane conductance regulator and related ATP-binding cassette transporters.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Jordan, I King IK; Kota, Karthik C KC; Cui, Guiying G; Thompson, Christopher H CH; McCarty, Nael A NA
Publication Date: 2008-12-02

Variant appearance in text: CFTR: R352K
PubMed Link: 19020075
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations at arginine 352 alter the pore architecture of CFTR.

The Journal Of Membrane Biology
Cui, Guiying G; Zhang, Zhi-Ren ZR; O'Brien, Andrew R W AR; Song, Binlin B; McCarty, Nael A NA
Publication Date: 2008-03

Variant appearance in text: CFTR: R352K
PubMed Link: 18421494
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: R352K
PubMed Link: 17043152
Variant Present in the following documents:
  • Main text
  • jgp1280535.pdf
View BVdb publication page