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SELENON c.146G>C ;(p.C49S)
Variant ID: 1-26126867-G-C
NM_020451.2(
SELENON
):c.146G>C;(p.C49S)
This variant was identified in 2 publications
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: C49S
PubMed Link:
32817544
Variant Present in the following documents:
pnas.2003847117.sapp.pdf
View BVdb publication page
Intermediate filament diseases: desminopathy.
Advances In Experimental Medicine And Biology
Goldfarb, Lev G LG; Olivé, Montse M; Vicart, Patrick P; Goebel, Hans H HH
Publication Date: 2008
Variant appearance in text: SEPN1: 146G>C
PubMed Link:
19181099
Variant Present in the following documents:
Main text
View BVdb publication page