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SELENON c.257A>G ;(p.Y86C)
Variant ID: 1-26127607-A-G
NM_020451.2(
SELENON
):c.257A>G;(p.Y86C)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: Y86C
PubMed Link:
32817544
Variant Present in the following documents:
Main text
pnas.2003847117.sapp.pdf
pnas.202003847.pdf
View BVdb publication page