CFTR c.517_518delinsCG ;(p.D173R)

Variant ID: 7-117174357-GA-CG

NM_000492.3(CFTR):c.517_518delinsCG;(p.D173R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular mechanisms of cystic fibrosis - how mutations lead to misfunction and guide therapy.

Bioscience Reports
Farinha, Carlos M CM; Callebaut, Isabelle I
Publication Date: 2022-07-29

Variant appearance in text: CFTR: D173R
PubMed Link: 35707985
Variant Present in the following documents:
  • Main text
  • bsr-42-bsr20212006.pdf
View BVdb publication page



G551D mutation impairs PKA-dependent activation of CFTR channel that can be restored by novel GOF mutations.

American Journal Of Physiology. Lung Cellular And Molecular Physiology
Wang, Wei W; Fu, Lianwu L; Liu, Zhiyong Z; Wen, Hui H; Rab, Andras A; Hong, Jeong S JS; Kirk, Kevin L KL; Rowe, Steven M SM
Publication Date: 2020-11-01

Variant appearance in text: CFTR: D173R
PubMed Link: 32877225
Variant Present in the following documents:
  • Main text
View BVdb publication page