CFTR c.2000A>G ;(p.H667R)

Variant ID: 7-117232221-A-G

NM_000492.3(CFTR):c.2000A>G;(p.H667R)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


A pathogenic role for cystic fibrosis transmembrane conductance regulator in celiac disease.

The Embo Journal
Villella, Valeria R VR; Venerando, Andrea A; Cozza, Giorgio G; Esposito, Speranza S; Ferrari, Eleonora E; Monzani, Romina R; Spinella, Mara C MC; Oikonomou, Vasilis V; Renga, Giorgia G; Tosco, Antonella A; Rossin, Federica F; Guido, Stefano S; Silano, Marco M; Garaci, Enrico E; Chao, Yu-Kai YK; Grimm, Christian C; Luciani, Alessandro A; Romani, Luigina L; Piacentini, Mauro M; Raia, Valeria V; Kroemer, Guido G; Maiuri, Luigi L
Publication Date: 2019-01-15

Variant appearance in text: CFTR: H667R
PubMed Link: 30498130
Variant Present in the following documents:
  • Main text
  • EMBJ-38-e100101.pdf
View BVdb publication page



Differential Scanning Fluorimetry and Hydrogen Deuterium Exchange Mass Spectrometry to Monitor the Conformational Dynamics of NBD1 in Cystic Fibrosis.

Methods In Molecular Biology (Clifton, N.J.)
Soya, Naoto N; Roldan, Ariel A; Lukacs, Gergely L GL
Publication Date: 2019

Variant appearance in text: CFTR: H667R
PubMed Link: 30341603
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cystic fibrosis transmembrane conductance regulator (ABCC7) structure.

Cold Spring Harbor Perspectives In Medicine
Hunt, John F JF; Wang, Chi C; Ford, Robert C RC
Publication Date: 2013-02-01

Variant appearance in text: CFTR: H667R
PubMed Link: 23378596
Variant Present in the following documents:
  • Main text
View BVdb publication page



Correction of both NBD1 energetics and domain interface is required to restore ΔF508 CFTR folding and function.

Cell
Rabeh, Wael M WM; Bossard, Florian F; Xu, Haijin H; Okiyoneda, Tsukasa T; Bagdany, Miklos M; Mulvihill, Cory M CM; Du, Kai K; di Bernardo, Salvatore S; Liu, Yuhong Y; Konermann, Lars L; Roldan, Ariel A; Lukacs, Gergely L GL
Publication Date: 2012-01-20

Variant appearance in text: CFTR: H667R
PubMed Link: 22265408
Variant Present in the following documents:
  • Main text
View BVdb publication page



State-dependent regulation of cystic fibrosis transmembrane conductance regulator (CFTR) gating by a high affinity Fe3+ bridge between the regulatory domain and cytoplasmic loop 3.

The Journal Of Biological Chemistry
Wang, Guangyu G
Publication Date: 2010-12-24

Variant appearance in text: CFTR: H667R
PubMed Link: 20952391
Variant Present in the following documents:
  • Main text
View BVdb publication page



Side chain and backbone contributions of Phe508 to CFTR folding.

Nature Structural & Molecular Biology
Thibodeau, Patrick H PH; Brautigam, Chad A CA; Machius, Mischa M; Thomas, Philip J PJ
Publication Date: 2005-01

Variant appearance in text: CFTR: H667R
PubMed Link: 15619636
Variant Present in the following documents:
  • Main text
View BVdb publication page



PKC-mediated stimulation of amphibian CFTR depends on a single phosphorylation consensus site. insertion of this site confers PKC sensitivity to human CFTR.

The Journal Of General Physiology
Button, B B; Reuss, L L; Altenberg, G A GA
Publication Date: 2001-05

Variant appearance in text: CFTR: H667R
PubMed Link: 11331356
Variant Present in the following documents:
  • Main text
  • 8372.pdf
View BVdb publication page