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CFTR c.1039_1040delinsGC ;(p.R347A)
Variant ID: 7-117180323-CG-GC
NM_000492.3(
CFTR
):c.1039_1040delinsGC;(p.R347A)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Strategies for cystic fibrosis transmembrane conductance regulator inhibition: from molecular mechanisms to treatment for secretory diarrhoeas.
Febs Letters
de Jonge, Hugo R HR; Ardelean, Maria C MC; Bijvelds, Marcel J C MJC; Vergani, Paola P
Publication Date: 2020-12
Variant appearance in text: CFTR: R347A
PubMed Link:
33113586
Variant Present in the following documents:
Main text
FEB2-594-4085.pdf
View BVdb publication page
Murine and human CFTR exhibit different sensitivities to CFTR potentiators.
American Journal Of Physiology. Lung Cellular And Molecular Physiology
Cui, Guiying G; McCarty, Nael A NA
Publication Date: 2015-10-01
Variant appearance in text: CFTR: R347A
PubMed Link:
26209275
Variant Present in the following documents:
Main text
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: R347A
PubMed Link:
23709221
Variant Present in the following documents:
Main text
View BVdb publication page
Mutations at arginine 352 alter the pore architecture of CFTR.
The Journal Of Membrane Biology
Cui, Guiying G; Zhang, Zhi-Ren ZR; O'Brien, Andrew R W AR; Song, Binlin B; McCarty, Nael A NA
Publication Date: 2008-03
Variant appearance in text: CFTR: R347A
PubMed Link:
18421494
Variant Present in the following documents:
Main text
View BVdb publication page