CFTR c.4042_4043delinsGC ;(p.H1348A)

Variant ID: 7-117304820-CA-GC

NM_000492.3(CFTR):c.4042_4043delinsGC;(p.H1348A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Asymmetry of movements in CFTR's two ATP sites during pore opening serves their distinct functions.

Elife
Sorum, Ben B; Töröcsik, Beáta B; Csanády, László L
Publication Date: 2017-09-25

Variant appearance in text: CFTR: H1348A
PubMed Link: 28944753
Variant Present in the following documents:
  • Main text
  • elife-29013.pdf
View BVdb publication page



Conformational changes in the catalytically inactive nucleotide-binding site of CFTR.

The Journal Of General Physiology
Csanády, László L; Mihályi, Csaba C; Szollosi, Andras A; Töröcsik, Beáta B; Vergani, Paola P
Publication Date: 2013-07

Variant appearance in text: CFTR: H1348A
PubMed Link: 23752332
Variant Present in the following documents:
  • Main text
  • JGP_201210954.pdf
View BVdb publication page



Mutant cycles at CFTR's non-canonical ATP-binding site support little interface separation during gating.

The Journal Of General Physiology
Szollosi, Andras A; Muallem, Daniella R DR; Csanády, László L; Vergani, Paola P
Publication Date: 2011-06

Variant appearance in text: CFTR: H1348A
PubMed Link: 21576373
Variant Present in the following documents:
  • Main text
  • JGP_201110608.pdf
View BVdb publication page