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CFTR c.907_908delinsGA ;(p.R303E)
Variant ID: 7-117180191-AG-GA
NM_000492.3(
CFTR
):c.907_908delinsGA;(p.R303E)
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
ClinVar
dbSNP
Publications:
Functional organization of cytoplasmic portals controlling access to the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel pore.
The Journal Of Biological Chemistry
Li, Man-Song MS; Cowley, Elizabeth A EA; El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2018-04-13
Variant appearance in text: CFTR: R303E
PubMed Link:
29475947
Variant Present in the following documents:
Main text
View BVdb publication page
Positive charges at the intracellular mouth of the pore regulate anion conduction in the CFTR chloride channel.
The Journal Of General Physiology
Aubin, Chantal N St CN; Linsdell, Paul P
Publication Date: 2006-11
Variant appearance in text: CFTR: R303E
PubMed Link:
17043152
Variant Present in the following documents:
Main text
jgp1280535.pdf
View BVdb publication page