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CFTR c.1487_1488delinsTT ;(p.W496F)
Variant ID: 7-117199612-GG-TT
NM_000492.3(
CFTR
):c.1487_1488delinsTT;(p.W496F)
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:
Diminished self-chaperoning activity of the DeltaF508 mutant of CFTR results in protein misfolding.
Plos Computational Biology
Serohijos, Adrian W R AW; Hegedus, Tamás T; Riordan, John R JR; Dokholyan, Nikolay V NV
Publication Date: 2008-02-29
Variant appearance in text: CFTR: W496F
PubMed Link:
18463704
Variant Present in the following documents:
Main text
pcbi.1000008.pdf
View BVdb publication page
Side chain and backbone contributions of Phe508 to CFTR folding.
Nature Structural & Molecular Biology
Thibodeau, Patrick H PH; Brautigam, Chad A CA; Machius, Mischa M; Thomas, Philip J PJ
Publication Date: 2005-01
Variant appearance in text: CFTR: W496F
PubMed Link:
15619636
Variant Present in the following documents:
Main text
View BVdb publication page