CFTR c.292C>A ;(p.Q98K)

Variant ID: 7-117170971-C-A

NM_000492.3(CFTR):c.292C>A;(p.Q98K)

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: Q98K
PubMed Link: 35101441
Variant Present in the following documents:
  • Main text
  • main.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: Q98K
PubMed Link: 24600512
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.

Gut
Schnúr, Andrea A; Beer, Sebastian S; Witt, Heiko H; Hegyi, Péter P; Sahin-Tóth, Miklós M
Publication Date: 2014-02

Variant appearance in text: CFTR: 292C>A; Q98K
PubMed Link: 23455445
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: Q98K
PubMed Link: 23083715
Variant Present in the following documents:
  • Main text
View BVdb publication page