CFTR c.2698A>G ;(p.N900D)

Variant ID: 7-117243626-A-G

NM_000492.3(CFTR):c.2698A>G;(p.N900D)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Transcytosis maintains CFTR apical polarity in the face of constitutive and mutation-induced basolateral missorting.

Journal Of Cell Science
Bidaud-Meynard, Aurélien A; Bossard, Florian F; Schnúr, Andrea A; Fukuda, Ryosuke R; Veit, Guido G; Xu, Haijin H; Lukacs, Gergely L GL
Publication Date: 2019-05-15

Variant appearance in text: CFTR: N900D
PubMed Link: 30975917
Variant Present in the following documents:
  • Main text
View BVdb publication page



Trafficking and function of the cystic fibrosis transmembrane conductance regulator: a complex network of posttranslational modifications.

American Journal Of Physiology. Lung Cellular And Molecular Physiology
McClure, Michelle L ML; Barnes, Stephen S; Brodsky, Jeffrey L JL; Sorscher, Eric J EJ
Publication Date: 2016-10-01

Variant appearance in text: CFTR: N900D
PubMed Link: 27474090
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alteration of CFTR transmembrane span integration by disease-causing mutations.

Molecular Biology Of The Cell
Patrick, Anna E AE; Karamyshev, Andrey L AL; Millen, Linda L; Thomas, Philip J PJ
Publication Date: 2011-12

Variant appearance in text: CFTR: N900D
PubMed Link: 21998193
Variant Present in the following documents:
  • supp_E11-05-0396_CombinedSupMats.pdf
View BVdb publication page



Protein quality control at the plasma membrane.

Current Opinion In Cell Biology
Okiyoneda, Tsukasa T; Apaja, Pirjo M PM; Lukacs, Gergely L GL
Publication Date: 2011-08

Variant appearance in text: CFTR: N900D
PubMed Link: 21571517
Variant Present in the following documents:
  • Main text
View BVdb publication page



N-glycans are direct determinants of CFTR folding and stability in secretory and endocytic membrane traffic.

The Journal Of Cell Biology
Glozman, Rina R; Okiyoneda, Tsukasa T; Mulvihill, Cory M CM; Rini, James M JM; Barriere, Herve H; Lukacs, Gergely L GL
Publication Date: 2009-03-23

Variant appearance in text: CFTR: N900D
PubMed Link: 19307599
Variant Present in the following documents:
  • Main text
  • JCB_200808124.pdf
View BVdb publication page



Role of N-linked oligosaccharides in the biosynthetic processing of the cystic fibrosis membrane conductance regulator.

Journal Of Cell Science
Chang, Xiu-Bao XB; Mengos, April A; Hou, Yue-Xian YX; Cui, Liying L; Jensen, Timothy J TJ; Aleksandrov, Andrei A; Riordan, John R JR; Gentzsch, Martina M
Publication Date: 2008-09-01

Variant appearance in text: CFTR: N900D
PubMed Link: 18682497
Variant Present in the following documents:
  • Main text
View BVdb publication page