CFTR c.2680_2681delinsGC ;(p.N894A)

Variant ID: 7-117243608-AA-GC

NM_000492.3(CFTR):c.2680_2681delinsGC;(p.N894A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Sequence-specific retention and regulated integration of a nascent membrane protein by the endoplasmic reticulum Sec61 translocon.

Molecular Biology Of The Cell
Pitonzo, David D; Yang, Zhongying Z; Matsumura, Yoshihiro Y; Johnson, Arthur E AE; Skach, William R WR
Publication Date: 2009-01

Variant appearance in text: CFTR: N894A
PubMed Link: 19019984
Variant Present in the following documents:
  • Main text
View BVdb publication page



Most F508del-CFTR is targeted to degradation at an early folding checkpoint and independently of calnexin.

Molecular And Cellular Biology
Farinha, Carlos M CM; Amaral, Margarida D MD
Publication Date: 2005-06

Variant appearance in text: CFTR: N894A
PubMed Link: 15923638
Variant Present in the following documents:
  • Main text
View BVdb publication page