CFTR c.274G>C ;(p.E92Q)

Variant ID: 7-117170953-G-C

NM_000492.3(CFTR):c.274G>C;(p.E92Q)

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: E92Q
PubMed Link: 35101441
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1.

Molecular Biology Of The Cell
Ren, Hong Yu HY; Grove, Diane E DE; De La Rosa, Oxana O; Houck, Scott A SA; Sopha, Pattarawut P; Van Goor, Fredrick F; Hoffman, Beth J BJ; Cyr, Douglas M DM
Publication Date: 2013-10

Variant appearance in text: CFTR: E92Q
PubMed Link: 23924900
Variant Present in the following documents:
  • supp_E13-05-0240v1_CombinedSupMats.pdf
View BVdb publication page