CFTR c.3202_3204delinsATG ;(p.F1068M)

Variant ID: 7-117251697-TTC-ATG

NM_000492.3(CFTR):c.3202_3204delinsATG;(p.F1068M)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Can two wrongs make a right? F508del-CFTR ion channel rescue by second-site mutations in its transmembrane domains.

The Journal Of Biological Chemistry
Prins, Stella S; Corradi, Valentina V; Sheppard, David N DN; Tieleman, D Peter DP; Vergani, Paola P
Publication Date: 2022-03

Variant appearance in text: CFTR: F1068M
PubMed Link: 35065958
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Relationship between nucleotide binding and ion channel gating in cystic fibrosis transmembrane conductance regulator.

The Journal Of Physiology
Aleksandrov, Andrei A AA; Cui, Liying L; Riordan, John R JR
Publication Date: 2009-06-15

Variant appearance in text: CFTR: F1068M
PubMed Link: 19403599
Variant Present in the following documents:
  • Main text
View BVdb publication page