Variant ID: 1-55529182-C-A

NM_174936.3(PCSK9):c.2004C>A;(p.S668R)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


PCSK9 Biology and Its Role in Atherothrombosis.

International Journal Of Molecular Sciences
Barale, Cristina C; Melchionda, Elena E; Morotti, Alessandro A; Russo, Isabella I
Publication Date: 2021-05-30

Variant appearance in text: PCSK9: S668R
PubMed Link: 34070931
Variant Present in the following documents:
  • Main text
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The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Genes
Meshkov, Alexey A; Ershova, Alexandra A; Kiseleva, Anna A; Zotova, Evgenia E; Sotnikova, Evgeniia E; Petukhova, Anna A; Zharikova, Anastasia A; Malyshev, Pavel P; Rozhkova, Tatyana T; Blokhina, Anastasia A; Limonova, Alena A; Ramensky, Vasily V; Divashuk, Mikhail M; Khasanova, Zukhra Z; Bukaeva, Anna A; Kurilova, Olga O; Skirko, Olga O; Pokrovskaya, Maria M; Mikova, Valeriya V; Snigir, Ekaterina E; Akinshina, Alexsandra A; Mitrofanov, Sergey S; Kashtanova, Daria D; Makarov, Valentin V; Kukharchuk, Valeriy V; Boytsov, Sergey S; Yudin, Sergey S; Drapkina, Oxana O
Publication Date: 2021-01-06

Variant appearance in text: PCSK9: 2004C>A; Ser668Arg; rs762298323
PubMed Link: 33418990
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ser-Phosphorylation of PCSK9 (Proprotein Convertase Subtilisin-Kexin 9) by Fam20C (Family With Sequence Similarity 20, Member C) Kinase Enhances Its Ability to Degrade the LDLR (Low-Density Lipoprotein Receptor).

Arteriosclerosis, Thrombosis, And Vascular Biology
Ben Djoudi Ouadda, Ali A; Gauthier, Marie-Soleil MS; Susan-Resiga, Delia D; Girard, Emmanuelle E; Essalmani, Rachid R; Black, Miles M; Marcinkiewicz, Jadwiga J; Forget, Diane D; Hamelin, Josée J; Evagelidis, Alexandra A; Ly, Kevin K; Day, Robert R; Galarneau, Luc L; Corbin, Francois F; Coulombe, Benoit B; Çaku, Artuela A; Tagliabracci, Vincent S VS; Seidah, Nabil G NG
Publication Date: 2019-10

Variant appearance in text: PCSK9: S668R
PubMed Link: 31553664
Variant Present in the following documents:
  • Main text
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Cyclase-associated protein 1 is a binding partner of proprotein convertase subtilisin/kexin type-9 and is required for the degradation of low-density lipoprotein receptors by proprotein convertase subtilisin/kexin type-9.

European Heart Journal
Jang, Hyun-Duk HD; Lee, Sang Eun SE; Yang, Jimin J; Lee, Hyun-Chae HC; Shin, Dasom D; Lee, Hwan H; Lee, Jaewon J; Jin, Sooryeonhwa S; Kim, Soungchan S; Lee, Seung Ji SJ; You, Jihye J; Park, Hyun-Woo HW; Nam, Ky-Youb KY; Lee, Sang-Hak SH; Park, Sahng Wook SW; Kim, Jin-Soo JS; Kim, Sang-Yeob SY; Kwon, Yoo-Wook YW; Kwak, Soo Heon SH; Yang, Han-Mo HM; Kim, Hyo-Soo HS
Publication Date: 2020-01-07

Variant appearance in text: PCSK9: S668R
PubMed Link: 31419281
Variant Present in the following documents:
  • Main text
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Plasma Membrane Tetraspanin CD81 Complexes with Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR), and Its Levels Are Reduced by PCSK9.

The Journal Of Biological Chemistry
Le, Quoc-Tuan QT; Blanchet, Matthieu M; Seidah, Nabil G NG; Labonté, Patrick P
Publication Date: 2015-09-18

Variant appearance in text: PCSK9: S668R
PubMed Link: 26195630
Variant Present in the following documents:
  • Main text
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The M2 module of the Cys-His-rich domain (CHRD) of PCSK9 protein is needed for the extracellular low-density lipoprotein receptor (LDLR) degradation pathway.

The Journal Of Biological Chemistry
Saavedra, Yascara Grisel Luna YG; Day, Robert R; Seidah, Nabil G NG
Publication Date: 2012-12-21

Variant appearance in text: PCSK9: S668R
PubMed Link: 23105118
Variant Present in the following documents:
  • Main text
View BVdb publication page