CFTR c.133_134inv ;(p.S45D)

Variant ID: 7-117144386-TC-GA

NM_000492.3(CFTR):c.133_134inv;(p.S45D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Phospho-regulation, nucleotide binding and ion access control in potassium-chloride cotransporters.

The Embo Journal
Chi, Gamma G; Ebenhoch, Rebecca R; Man, Henry H; Tang, Haiping H; Tremblay, Laurence E LE; Reggiano, Gabriella G; Qiu, Xingyu X; Bohstedt, Tina T; Liko, Idlir I; Almeida, Fernando G FG; Garneau, Alexandre P AP; Wang, Dong D; McKinley, Gavin G; Moreau, Christophe P CP; Bountra, Kiran D KD; Abrusci, Patrizia P; Mukhopadhyay, Shubhashish M M SMM; Fernandez-Cid, Alejandra A; Slimani, Samira S; Lavoie, Julie L JL; Burgess-Brown, Nicola A NA; Tehan, Ben B; DiMaio, Frank F; Jazayeri, Ali A; Isenring, Paul P; Robinson, Carol V CV; Dürr, Katharina L KL
Publication Date: 2021-07-15

Variant appearance in text: CFTR: S45D
PubMed Link: 34031912
Variant Present in the following documents:
  • Main text
  • EMBJ-40-e107294.pdf
View BVdb publication page



Phosphorylation of the Chaperone-Like HspB5 Rescues Trafficking and Function of F508del-CFTR.

International Journal Of Molecular Sciences
Degrugillier, Fanny F; Aissat, Abdel A; Prulière-Escabasse, Virginie V; Bizard, Lucie L; Simonneau, Benjamin B; Decrouy, Xavier X; Jiang, Chong C; Rotin, Daniela D; Fanen, Pascale P; Simon, Stéphanie S
Publication Date: 2020-07-08

Variant appearance in text: CFTR: S45D
PubMed Link: 32650630
Variant Present in the following documents:
  • Main text
  • ijms-21-04844.pdf
View BVdb publication page