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CFTR c.1524T>A ;(p.F508L)
Variant ID: 7-117199649-T-A
NM_000492.3(
CFTR
):c.1524T>A;(p.F508L)
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:
Identification of pathogenic missense mutations using protein stability predictors.
Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21
Variant appearance in text: CFTR: F508L
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
Asymmetry of movements in CFTR's two ATP sites during pore opening serves their distinct functions.
Elife
Sorum, Ben B; Töröcsik, Beáta B; Csanády, László L
Publication Date: 2017-09-25
Variant appearance in text: CFTR: F508L
PubMed Link:
28944753
Variant Present in the following documents:
Main text
View BVdb publication page
Latest in cystic fibrosis.
Missouri Medicine
Nayak, Ravi P RP
Publication Date: 2012
Variant appearance in text: CFTR: F508l
PubMed Link:
22675793
Variant Present in the following documents:
Main text
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: F508L
PubMed Link:
15619636
Variant Present in the following documents:
Main text
View BVdb publication page