PC c.391_392delinsGC ;(p.C131A)

Variant ID: 11-66638881-CA-GC

NM_001040716.1(PC):c.391_392delinsGC;(p.C131A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Hyperactivity of the Ero1α oxidase elicits endoplasmic reticulum stress but no broad antioxidant response.

The Journal Of Biological Chemistry
Hansen, Henning Gram HG; Schmidt, Jonas Damgård JD; Søltoft, Cecilie Lützen CL; Ramming, Thomas T; Geertz-Hansen, Henrik Marcus HM; Christensen, Brian B; Sørensen, Esben Skipper ES; Juncker, Agnieszka Sierakowska AS; Appenzeller-Herzog, Christian C; Ellgaard, Lars L
Publication Date: 2012-11-16

Variant appearance in text: PC: C131A
PubMed Link: 23027870
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel disulphide switch mechanism in Ero1alpha balances ER oxidation in human cells.

The Embo Journal
Appenzeller-Herzog, Christian C; Riemer, Jan J; Christensen, Brian B; Sørensen, Esben S ES; Ellgaard, Lars L
Publication Date: 2008-11-19

Variant appearance in text: PC: C131A
PubMed Link: 18833192
Variant Present in the following documents:
  • Main text
View BVdb publication page