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CFTR c.1003_1004delinsGC ;(p.K335A)
Variant ID: 7-117180287-AA-GC
NM_000492.3(
CFTR
):c.1003_1004delinsGC;(p.K335A)
This variant was identified in 7 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
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dbSNP
Publications:
The cystic fibrosis transmembrane conductance regulator is an extracellular chloride sensor.
Pflugers Archiv : European Journal Of Physiology
Broadbent, Steven D SD; Ramjeesingh, Mohabir M; Bear, Christine E CE; Argent, Barry E BE; Linsdell, Paul P; Gray, Michael A MA
Publication Date: 2015-08
Variant appearance in text: CFTR: K335A
PubMed Link:
25277268
Variant Present in the following documents:
Main text
424_2014_Article_1618.pdf
View BVdb publication page
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: K335A
PubMed Link:
23709221
Variant Present in the following documents:
Main text
View BVdb publication page
Mutation-induced blocker permeability and multiion block of the CFTR chloride channel pore.
The Journal Of General Physiology
Gong, Xiandi X; Linsdell, Paul P
Publication Date: 2003-12
Variant appearance in text: CFTR: K335A
PubMed Link:
14610019
Variant Present in the following documents:
Main text
200308889.pdf
View BVdb publication page
Molecular determinants and role of an anion binding site in the external mouth of the CFTR chloride channel pore.
The Journal Of Physiology
Gong, Xiandi X; Linsdell, Paul P
Publication Date: 2003-06-01
Variant appearance in text: CFTR: K335A
PubMed Link:
12679372
Variant Present in the following documents:
Main text
View BVdb publication page
Mechanism of lonidamine inhibition of the CFTR chloride channel.
British Journal Of Pharmacology
Gong, Xiandi X; Burbridge, Susan M SM; Lewis, Angie C AC; Wong, Patrick Y D PY; Linsdell, Paul P
Publication Date: 2002-11
Variant appearance in text: CFTR: K335A
PubMed Link:
12411425
Variant Present in the following documents:
Main text
View BVdb publication page
Molecular determinants of Au(CN)(2)(-) binding and permeability within the cystic fibrosis transmembrane conductance regulator Cl(-) channel pore.
The Journal Of Physiology
Gong, Xiandi X; Burbridge, Susan M SM; Cowley, Elizabeth A EA; Linsdell, Paul P
Publication Date: 2002-04-01
Variant appearance in text: CFTR: K335A
PubMed Link:
11927667
Variant Present in the following documents:
Main text
View BVdb publication page
CFTR: covalent and noncovalent modification suggests a role for fixed charges in anion conduction.
The Journal Of General Physiology
Smith, S S SS; Liu, X X; Zhang, Z R ZR; Sun, F F; Kriewall, T E TE; McCarty, N A NA; Dawson, D C DC
Publication Date: 2001-10
Variant appearance in text: CFTR: K335A
PubMed Link:
11585852
Variant Present in the following documents:
Main text
8480.pdf
View BVdb publication page