CFTR c.1700A>C ;(p.D567A)

Variant ID: 7-117230427-A-C

NM_000492.3(CFTR):c.1700A>C;(p.D567A)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


ABC-transporter CFTR folds with high fidelity through a modular, stepwise pathway.

Cellular And Molecular Life Sciences : Cmls
Im, Jisu J; Hillenaar, Tamara T; Yeoh, Hui Ying HY; Sahasrabudhe, Priyanka P; Mijnders, Marjolein M; van Willigen, Marcel M; Hagos, Azib A; de Mattos, Eduardo E; van der Sluijs, Peter P; Braakman, Ineke I
Publication Date: 2023-01-07

Variant appearance in text: CFTR: D567A
PubMed Link: 36609925
Variant Present in the following documents:
  • 18_2022_4671_MOESM1_ESM.pdf
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: CFTR: D567A
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Proteomics and Metabolomics for Cystic Fibrosis Research.

International Journal Of Molecular Sciences
Liessi, Nara N; Pedemonte, Nicoletta N; Armirotti, Andrea A; Braccia, Clarissa C
Publication Date: 2020-07-30

Variant appearance in text: CFTR: D567A
PubMed Link: 32751630
Variant Present in the following documents:
  • Main text
  • ijms-21-05439.pdf
View BVdb publication page



How to Avoid a No-Deal ER Exit.

Cells
Anelli, Tiziana T; Panina-Bordignon, Paola P
Publication Date: 2019-09-07

Variant appearance in text: CFTR: D567A
PubMed Link: 31500301
Variant Present in the following documents:
  • Main text
  • cells-08-01051.pdf
View BVdb publication page



Folding Status Is Determinant over Traffic-Competence in Defining CFTR Interactors in the Endoplasmic Reticulum.

Cells
Santos, João D JD; Canato, Sara S; Carvalho, Ana S AS; Botelho, Hugo M HM; Aloria, Kerman K; Amaral, Margarida D MD; Matthiesen, Rune R; Falcao, Andre O AO; Farinha, Carlos M CM
Publication Date: 2019-04-14

Variant appearance in text: CFTR: D567A
PubMed Link: 31014000
Variant Present in the following documents:
  • Main text
  • cells-08-00353.pdf
View BVdb publication page



COPII machinery cooperates with ER-localized Hsp40 to sequester misfolded membrane proteins into ER-associated compartments.

Molecular Biology Of The Cell
Kakoi, Shogo S; Yorimitsu, Tomohiro T; Sato, Ken K
Publication Date: 2013-03

Variant appearance in text: CFTR: D567A
PubMed Link: 23303252
Variant Present in the following documents:
  • Main text
  • 633.pdf
View BVdb publication page



Targets for cystic fibrosis therapy: proteomic analysis and correction of mutant cystic fibrosis transmembrane conductance regulator.

Expert Review Of Proteomics
Collawn, James F JF; Fu, Lianwu L; Bebok, Zsuzsa Z
Publication Date: 2010-08

Variant appearance in text: CFTR: D567A
PubMed Link: 20653506
Variant Present in the following documents:
  • Main text
View BVdb publication page