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.




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