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.




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