CFTR c.1652G>C ;(p.G551A)

Variant ID: 7-117227860-G-C

NM_000492.3(CFTR):c.1652G>C;(p.G551A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


VX-770-mediated potentiation of numerous human CFTR disease mutants is influenced by phosphorylation level.

Scientific Reports
Cui, Guiying G; Stauffer, Brandon B BB; Imhoff, Barry R BR; Rab, Andras A; Hong, Jeong S JS; Sorscher, Eric J EJ; McCarty, Nael A NA
Publication Date: 2019-09-17

Variant appearance in text: CFTR: G551A
PubMed Link: 31530897
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_49921.pdf
View BVdb publication page



Mutations at the signature sequence of CFTR create a Cd(2+)-gated chloride channel.

The Journal Of General Physiology
Wang, Xiaohui X; Bompadre, Silvia G SG; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2009-01

Variant appearance in text: CFTR: G551A
PubMed Link: 19114635
Variant Present in the following documents:
  • Main text
  • jgp1330069.pdf
View BVdb publication page



CFTR: the nucleotide binding folds regulate the accessibility and stability of the activated state.

The Journal Of General Physiology
Wilkinson, D J DJ; Mansoura, M K MK; Watson, P Y PY; Smit, L S LS; Collins, F S FS; Dawson, D C DC
Publication Date: 1996-01

Variant appearance in text: CFTR: G551A
PubMed Link: 8741733
Variant Present in the following documents:
  • jg1071103.pdf
View BVdb publication page