APOC3 c.73G>A ;(p.D25N)

Variant ID: 11-116701506-G-A

NM_000040.1(APOC3):c.73G>A;(p.D25N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile.

Nature Communications
Valleix, Sophie S; Verona, Guglielmo G; Jourde-Chiche, Noémie N; Nédelec, Brigitte B; Mangione, P Patrizia PP; Bridoux, Frank F; Mangé, Alain A; Dogan, Ahmet A; Goujon, Jean-Michel JM; Lhomme, Marie M; Dauteuille, Carolane C; Chabert, Michèle M; Porcari, Riccardo R; Waudby, Christopher A CA; Relini, Annalisa A; Talmud, Philippa J PJ; Kovrov, Oleg O; Olivecrona, Gunilla G; Stoppini, Monica M; Christodoulou, John J; Hawkins, Philip N PN; Grateau, Gilles G; Delpech, Marc M; Kontush, Anatol A; Gillmore, Julian D JD; Kalopissis, Athina D AD; Bellotti, Vittorio V
Publication Date: 2016-01-21

Variant appearance in text: ApoC-III: D25N
PubMed Link: 26790392
Variant Present in the following documents:
  • Main text
  • ncomms10353.pdf
View BVdb publication page



Apolipoproteins C-I and C-III inhibit lipoprotein lipase activity by displacement of the enzyme from lipid droplets.

The Journal Of Biological Chemistry
Larsson, Mikael M; Vorrsjö, Evelina E; Talmud, Philippa P; Lookene, Aivar A; Olivecrona, Gunilla G
Publication Date: 2013-11-22

Variant appearance in text: ApoC-III: D25N
PubMed Link: 24121499
Variant Present in the following documents:
  • Main text
View BVdb publication page