CFTR c.1987A>G ;(p.T663A)

Variant ID: 7-117232208-A-G

NM_000492.3(CFTR):c.1987A>G;(p.T663A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia.

Journal Of Medical Genetics
Stanke, Frauke F; Becker, Tim T; Kumar, Vinod V; Hedtfeld, Silke S; Becker, Christian C; Cuppens, Harry H; Tamm, Stephanie S; Yarden, Jennifer J; Laabs, Ulrike U; Siebert, Benny B; Fernandez, Luis L; Macek, Milan M; Radojkovic, Dragica D; Ballmann, Manfred M; Greipel, Joachim J; Cassiman, Jean-Jacques JJ; Wienker, Thomas F TF; Tümmler, Burkhard B
Publication Date: 2011-01

Variant appearance in text: CFTR: T663A
PubMed Link: 20837493
Variant Present in the following documents:
  • Main text
View BVdb publication page



A mutation of the epithelial sodium channel associated with atypical cystic fibrosis increases channel open probability and reduces Na+ self inhibition.

The Journal Of Physiology
Rauh, Robert R; Diakov, Alexei A; Tzschoppe, Anja A; Korbmacher, Judit J; Azad, Abul Kalam AK; Cuppens, Harry H; Cassiman, Jean-Jaques JJ; Dötsch, Jörg J; Sticht, Heinrich H; Korbmacher, Christoph C
Publication Date: 2010-04-15

Variant appearance in text: CFTR: T663A
PubMed Link: 20194130
Variant Present in the following documents:
  • Main text
View BVdb publication page



CFTR fails to inhibit the epithelial sodium channel ENaC expressed in Xenopus laevis oocytes.

The Journal Of Physiology
Nagel, G G; Barbry, P P; Chabot, H H; Brochiero, E E; Hartung, K K; Grygorczyk, R R
Publication Date: 2005-05-01

Variant appearance in text: CFTR: T663A
PubMed Link: 15746174
Variant Present in the following documents:
  • Main text
View BVdb publication page