CFTR c.1648G>C ;(p.G550R)

Variant ID: 7-117227856-G-C

NM_000492.3(CFTR):c.1648G>C;(p.G550R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


ATP and AMP mutually influence their interaction with the ATP-binding cassette (ABC) adenylate kinase cystic fibrosis transmembrane conductance regulator (CFTR) at separate binding sites.

The Journal Of Biological Chemistry
Randak, Christoph O CO; Dong, Qian Q; Ver Heul, Amanda R AR; Elcock, Adrian H AH; Welsh, Michael J MJ
Publication Date: 2013-09-20

Variant appearance in text: CFTR: G550R
PubMed Link: 23921386
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional Rescue of F508del-CFTR Using Small Molecule Correctors.

Frontiers In Pharmacology
Molinski, Steven S; Eckford, Paul D W PD; Pasyk, Stan S; Ahmadi, Saumel S; Chin, Stephanie S; Bear, Christine E CE
Publication Date: 2012

Variant appearance in text: CFTR: G550R
PubMed Link: 23055971
Variant Present in the following documents:
  • Main text
  • fphar-03-00160.pdf
View BVdb publication page



Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis.

Human Mutation
Masica, David L DL; Sosnay, Patrick R PR; Cutting, Garry R GR; Karchin, Rachel R
Publication Date: 2012-08

Variant appearance in text: CFTR: G550R
PubMed Link: 22573477
Variant Present in the following documents:
  • Main text
View BVdb publication page