CFTR c.1571G>C ;(p.C524S)

Variant ID: 7-117199696-G-C

NM_000492.3(CFTR):c.1571G>C;(p.C524S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: C524S
PubMed Link: 27474090
Variant Present in the following documents:
  • Main text
View BVdb publication page



Deletion of Phenylalanine 508 in the First Nucleotide-binding Domain of the Cystic Fibrosis Transmembrane Conductance Regulator Increases Conformational Exchange and Inhibits Dimerization.

The Journal Of Biological Chemistry
Chong, P Andrew PA; Farber, Patrick J PJ; Vernon, Robert M RM; Hudson, Rhea P RP; Mittermaier, Anthony K AK; Forman-Kay, Julie D JD
Publication Date: 2015-09-18

Variant appearance in text: CFTR: C524S
PubMed Link: 26149808
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cystic fibrosis transmembrane conductance regulator: using differential reactivity toward channel-permeant and channel-impermeant thiol-reactive probes to test a molecular model for the pore.

Biochemistry
Alexander, Christopher C; Ivetac, Anthony A; Liu, Xuehong X; Norimatsu, Yohei Y; Serrano, Jose R JR; Landstrom, Allison A; Sansom, Mark M; Dawson, David C DC
Publication Date: 2009-10-27

Variant appearance in text: CFTR: C524S
PubMed Link: 19754156
Variant Present in the following documents:
  • Main text
  • bi901314c.pdf
View BVdb publication page



CFTR: Ligand exchange between a permeant anion ([Au(CN)2]-) and an engineered cysteine (T338C) blocks the pore.

Biophysical Journal
Serrano, José R JR; Liu, Xuehong X; Borg, Erik R ER; Alexander, Christopher S CS; Shaw, C Frank CF; Dawson, David C DC
Publication Date: 2006-09-01

Variant appearance in text: CFTR: C524S
PubMed Link: 16766608
Variant Present in the following documents:
  • Main text
View BVdb publication page