CFTR c.220_221delinsGC ;(p.R74A)

Variant ID: 7-117149143-CG-GC

NM_000492.3(CFTR):c.220_221delinsGC;(p.R74A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Pharmacological Responses of the G542X-CFTR to CFTR Modulators.

Frontiers In Molecular Biosciences
Fang, Xinxiu X; Yeh, Jiunn-Tyng JT; Hwang, Tzyh-Chang TC
Publication Date: 2022

Variant appearance in text: CFTR: R74A
PubMed Link: 35813815
Variant Present in the following documents:
  • Main text
  • fmolb-09-921680.pdf
View BVdb publication page



Structural Basis for the Inhibitory Effects of Ubistatins in the Ubiquitin-Proteasome Pathway.

Structure (London, England : 1993)
Nakasone, Mark A MA; Lewis, Timothy A TA; Walker, Olivier O; Thakur, Anita A; Mansour, Wissam W; CastaƱeda, Carlos A CA; Goeckeler-Fried, Jennifer L JL; Parlati, Frank F; Chou, Tsui-Fen TF; Hayat, Ortal O; Zhang, Daoning D; Camara, Christina M CM; Bonn, Steven M SM; Nowicka, Urszula K UK; Krueger, Susan S; Glickman, Michael H MH; Brodsky, Jeffrey L JL; Deshaies, Raymond J RJ; Fushman, David D
Publication Date: 2017-12-05

Variant appearance in text: CFTR: R74A
PubMed Link: 29153505
Variant Present in the following documents:
  • Main text
View BVdb publication page