AVP c.381C>G ;(p.S127R)

Variant ID: 20-3063390-G-C

NM_000490.4(AVP):c.381C>G;(p.S127R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


PCSK9 Gene Participates in the Development of Primary Dyslipidemias.

Balkan Journal Of Medical Genetics : Bjmg
Matías-Pérez, D D; Pérez-Santiago, A D AD; Sánchez Medina, M A MA; Alpuche Osorno, J J JJ; García-Montalvo, I A IA
Publication Date: 2021-06

Variant appearance in text: ADH: S127R
PubMed Link: 34447653
Variant Present in the following documents:
  • Main text
  • bjmg-24-005.pdf
View BVdb publication page



Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

Circulation. Cardiovascular Genetics
Hopkins, Paul N PN; Defesche, Joep J; Fouchier, Sigrid W SW; Bruckert, Eric E; Luc, Gérald G; Cariou, Bertrand B; Sjouke, Barbara B; Leren, Trond P TP; Harada-Shiba, Mariko M; Mabuchi, Hiroshi H; Rabès, Jean-Pierre JP; Carrié, Alain A; van Heyningen, Charles C; Carreau, Valérie V; Farnier, Michel M; Teoh, Yee P YP; Bourbon, Mafalda M; Kawashiri, Masa-Aki MA; Nohara, Atsushi A; Soran, Handrean H; Marais, A David AD; Tada, Hayato H; Abifadel, Marianne M; Boileau, Catherine C; Chanu, Bernard B; Katsuda, Shoji S; Kishimoto, Ichiro I; Lambert, Gilles G; Makino, Hisashi H; Miyamoto, Yoshihiro Y; Pichelin, Matthieu M; Yagi, Kunimasa K; Yamagishi, Masakazu M; Zair, Yassine Y; Mellis, Scott S; Yancopoulos, George D GD; Stahl, Neil N; Mendoza, Johanna J; Du, Yunling Y; Hamon, Sara S; Krempf, Michel M; Swergold, Gary D GD
Publication Date: 2015-12

Variant appearance in text: ADH: Ser127Arg
PubMed Link: 26374825
Variant Present in the following documents:
  • Main text
  • hcg-8-823-s003.pdf
  • hcg-8-823.pdf
View BVdb publication page



A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.

European Journal Of Human Genetics : Ejhg
Marques-Pinheiro, Alice A; Marduel, Marie M; Rabès, Jean-Pierre JP; Devillers, Martine M; Villéger, Ludovic L; Allard, Delphine D; Weissenbach, Jean J; Guerin, Maryse M; Zair, Yassine Y; Erlich, Danièle D; Junien, Claudine C; Munnich, Arnold A; Krempf, Michel M; Abifadel, Marianne M; Jaïs, Jean-Philippe JP; , ; Boileau, Catherine C; Varret, Mathilde M
Publication Date: 2010-11

Variant appearance in text: ADH: Ser127Arg
PubMed Link: 20571503
Variant Present in the following documents:
  • Main text
View BVdb publication page



Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotype.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Maxwell, Kara N KN; Breslow, Jan L JL
Publication Date: 2004-05-04

Variant appearance in text: ADH: S127R
PubMed Link: 15118091
Variant Present in the following documents:
  • Main text
View BVdb publication page