Variant ID: 20-3063390-G-C

NM_000490.4(AVP):c.381C>G;(p.Ser127Arg)

This variant was identified in 4 publications




Publications:


Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Journal Of Lipid Research
R Wintjens, D Bozon, K Belabbas, F MBou, JP Girardet, P Tounian, M Jolly, F Boccara, A Cohen, A Karsenty, B Dubern, JC Carel, A Azar-Kolakez, F Feillet, F Labarthe, AM Gorsky, A Horovitz, C Tamarindi, P Kieffer, A Lienhardt, O Lascols, M Di Filippo, F Dufernez
Publication Date: 2016-03

Variant appearance in text: ADH: Ser127Arg
PubMed Link: 26802169
Variant Present in the following documents:
  • 10.1194_P055699_jlr.P055699-3.xls
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
PN Hopkins, J Defesche, SW Fouchier, E Bruckert, G Luc, B Cariou, B Sjouke, TP Leren, M Harada-Shiba, H Mabuchi, JP Rabès, A Carrié, C van Heyningen, V Carreau, M Farnier, YP Teoh, M Bourbon, MA Kawashiri, A Nohara, H Soran, AD Marais, H Tada, M Abifadel, C Boileau, B Chanu, S Katsuda, I Kishimoto, G Lambert, H Makino, Y Miyamoto, M Pichelin, K Yagi, M Yamagishi, Y Zair, S Mellis, GD Yancopoulos, N Stahl, J Mendoza, Y Du, S Hamon, M Krempf, GD Swergold
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
View BVdb publication page



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

European Journal Of Human Genetics : Ejhg
A Marques-Pinheiro, M Marduel, JP Rabès, M Devillers, L Villéger, D Allard, J Weissenbach, M Guerin, Y Zair, D Erlich, C Junien, A Munnich, M Krempf, M Abifadel, JP Jaïs, , C Boileau, M Varret
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
KN Maxwell, JL Breslow
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



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000380293.3 c.381C>G p.Ser127Arg missense_variant 3/3 -
NM_000490.5 c.381C>G p.Ser127Arg missense_variant 3/3 -