CFTR c.283A>C ;(p.K95Q)

Variant ID: 7-117170962-A-C

NM_000492.3(CFTR):c.283A>C;(p.K95Q)

This variant was identified in 4 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: K95Q
PubMed Link: 35101441
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
View BVdb publication page



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: K95Q
PubMed Link: 29581173
Variant Present in the following documents:
  • Main text
  • JGP_201711946.pdf
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: K95Q
PubMed Link: 24600512
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tuning of CFTR chloride channel function by location of positive charges within the pore.

Biophysical Journal
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2012-10-17

Variant appearance in text: CFTR: K95Q
PubMed Link: 23083715
Variant Present in the following documents:
  • Main text
View BVdb publication page