CFTR c.2680A>G ;(p.N894D)

Variant ID: 7-117243608-A-G

NM_000492.3(CFTR):c.2680A>G;(p.N894D)

This variant was identified in 7 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: N894D
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: N894D
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: N894D
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: N894D
PubMed Link: 21571517
Variant Present in the following documents:
  • Main text
View BVdb publication page



Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures.

American Journal Of Physiology. Lung Cellular And Molecular Physiology
Cholon, Deborah M DM; O'Neal, Wanda K WK; Randell, Scott H SH; Riordan, John R JR; Gentzsch, Martina M
Publication Date: 2010-03

Variant appearance in text: CFTR: N894D
PubMed Link: 20008117
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: N894D
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: N894D
PubMed Link: 18682497
Variant Present in the following documents:
  • Main text
View BVdb publication page