CFTR c.1774_1775delinsCT ;(p.C592L)

Variant ID: 7-117231995-TG-CT

NM_000492.3(CFTR):c.1774_1775delinsCT;(p.C592L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Ligand binding to a remote site thermodynamically corrects the F508del mutation in the human cystic fibrosis transmembrane conductance regulator.

The Journal Of Biological Chemistry
Wang, Chi C; Aleksandrov, Andrei A AA; Yang, Zhengrong Z; Forouhar, Farhad F; Proctor, Elizabeth A EA; Kota, Pradeep P; An, Jianli J; Kaplan, Anna A; Khazanov, Netaly N; Boël, Grégory G; Stockwell, Brent R BR; Senderowitz, Hanoch H; Dokholyan, Nikolay V NV; Riordan, John R JR; Brouillette, Christie G CG; Hunt, John F JF
Publication Date: 2018-11-16

Variant appearance in text: CFTR: C592L
PubMed Link: 29903914
Variant Present in the following documents:
  • Main text
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Two salt bridges differentially contribute to the maintenance of cystic fibrosis transmembrane conductance regulator (CFTR) channel function.

The Journal Of Biological Chemistry
Cui, Guiying G; Freeman, Cody S CS; Knotts, Taylor T; Prince, Chengyu Z CZ; Kuang, Christopher C; McCarty, Nael A NA
Publication Date: 2013-07-12

Variant appearance in text: CFTR: C592L
PubMed Link: 23709221
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: C592L
PubMed Link: 19754156
Variant Present in the following documents:
  • Main text
  • bi901314c.pdf
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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: C592L
PubMed Link: 16766608
Variant Present in the following documents:
  • Main text
View BVdb publication page