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CFTR c.568A>C ;(p.K190Q)
Variant ID: 7-117174408-A-C
NM_000492.3(
CFTR
):c.568A>C;(p.K190Q)
This variant was identified in 1 publication
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: K190Q
PubMed Link:
29475947
Variant Present in the following documents:
Main text
View BVdb publication page