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CFTR c.985_986delinsGC ;(p.K329A)
Variant ID: 7-117180269-AA-GC
NM_000492.3(
CFTR
):c.985_986delinsGC;(p.K329A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
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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: K329A
PubMed Link:
25277268
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: K329A
PubMed Link:
11927667
Variant Present in the following documents:
Main text
View BVdb publication page