SELENON c.145T>A ;(p.C49S)

Variant ID: 1-26126866-T-A

NM_020451.2(SELENON):c.145T>A;(p.C49S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Selenoprotein N is an endoplasmic reticulum calcium sensor that links luminal calcium levels to a redox activity.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Chernorudskiy, Alexander A; Varone, Ersilia E; Colombo, Sara Francesca SF; Fumagalli, Stefano S; Cagnotto, Alfredo A; Cattaneo, Angela A; Briens, Mickael M; Baltzinger, Mireille M; Kuhn, Lauriane L; Bachi, Angela A; Berardi, Andrea A; Salmona, Mario M; Musco, Giovanna G; Borgese, Nica N; Lescure, Alain A; Zito, Ester E
Publication Date: 2020-09-01

Variant appearance in text: SEPN1: C49S
PubMed Link: 32817544
Variant Present in the following documents:
  • pnas.2003847117.sapp.pdf
View BVdb publication page