CFTR c.658_659inv ;(p.Q220W)

Variant ID: 7-117175380-CA-TG

NM_000492.3(CFTR):c.658_659inv;(p.Q220W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Abnormal SDS-PAGE migration of cytosolic proteins can identify domains and mechanisms that control surfactant binding.

Protein Science : A Publication Of The Protein Society
Shi, Yunhua Y; Mowery, Richard A RA; Ashley, Jonathan J; Hentz, Michelle M; Ramirez, Alejandro J AJ; Bilgicer, Basar B; Slunt-Brown, Hilda H; Borchelt, David R DR; Shaw, Bryan F BF
Publication Date: 2012-08

Variant appearance in text: CFTR: Q220W
PubMed Link: 22692797
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detergent binding explains anomalous SDS-PAGE migration of membrane proteins.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Rath, Arianna A; Glibowicka, Mira M; Nadeau, Vincent G VG; Chen, Gong G; Deber, Charles M CM
Publication Date: 2009-02-10

Variant appearance in text: CFTR: Q220W
PubMed Link: 19181854
Variant Present in the following documents:
  • Main text
View BVdb publication page