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CFTR c.2305_2306delinsTG ;(p.V769C)
Variant ID: 7-117232526-GT-TG
NM_000492.3(
CFTR
):c.2305_2306delinsTG;(p.V769C)
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:
The inhibition mechanism of non-phosphorylated Ser768 in the regulatory domain of cystic fibrosis transmembrane conductance regulator.
The Journal Of Biological Chemistry
Wang, Guangyu G
Publication Date: 2011-01-21
Variant appearance in text: CFTR: V769C
PubMed Link:
21059651
Variant Present in the following documents:
Main text
View BVdb publication page