CFTR c.1663_1664delinsCA ;(p.R555Q)

Variant ID: 7-117227871-AG-CA

NM_000492.3(CFTR):c.1663_1664delinsCA;(p.R555Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: CFTR: R555Q
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



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: R555Q
PubMed Link: 28944753
Variant Present in the following documents:
  • Main text
View BVdb publication page



CFTR channel opening by ATP-driven tight dimerization of its nucleotide-binding domains.

Nature
Vergani, Paola P; Lockless, Steve W SW; Nairn, Angus C AC; Gadsby, David C DC
Publication Date: 2005-02-24

Variant appearance in text: CFTR: R555Q
PubMed Link: 15729345
Variant Present in the following documents:
  • Main text
View BVdb publication page