CFTR c.1522T>C ;(p.F508L)

Variant ID: 7-117199647-T-C

NM_000492.3(CFTR):c.1522T>C;(p.F508L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: rs753920616
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



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