PCSK9 c.1492G>A ;(p.E498K)

Variant ID: 1-55524309-G-A

NM_174936.3(PCSK9):c.1492G>A;(p.E498K)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Regulation of PCSK9 Expression and Function: Mechanisms and Therapeutic Implications.

Frontiers In Cardiovascular Medicine
Xia, Xiao-Dan XD; Peng, Zhong-Sheng ZS; Gu, Hong-Mei HM; Wang, Maggie M; Wang, Gui-Qing GQ; Zhang, Da-Wei DW
Publication Date: 2021

Variant appearance in text: PCSK9: E498K
PubMed Link: 34782856
Variant Present in the following documents:
  • Main text
  • fcvm-08-764038.pdf
View BVdb publication page



Identifying individual risk rare variants using protein structure guided local tests (POINT).

Plos Computational Biology
Marceau West, Rachel R; Lu, Wenbin W; Rotroff, Daniel M DM; Kuenemann, Melaine A MA; Chang, Sheng-Mao SM; Wu, Michael C MC; Wagner, Michael J MJ; Buse, John B JB; Motsinger-Reif, Alison A AA; Fourches, Denis D; Tzeng, Jung-Ying JY
Publication Date: 2019-02

Variant appearance in text: rs145468572
PubMed Link: 30779729
Variant Present in the following documents:
  • Main text
  • pcbi.1006722.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs145468572
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: PCSK9: 1492G>A; E498K
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.

American Journal Of Human Genetics
Lange, Leslie A LA; Hu, Youna Y; Zhang, He H; Xue, Chenyi C; Schmidt, Ellen M EM; Tang, Zheng-Zheng ZZ; Bizon, Chris C; Lange, Ethan M EM; Smith, Joshua D JD; Turner, Emily H EH; Jun, Goo G; Kang, Hyun Min HM; Peloso, Gina G; Auer, Paul P; Li, Kuo-Ping KP; Flannick, Jason J; Zhang, Ji J; Fuchsberger, Christian C; Gaulton, Kyle K; Lindgren, Cecilia C; Locke, Adam A; Manning, Alisa A; Sim, Xueling X; Rivas, Manuel A MA; Holmen, Oddgeir L OL; Gottesman, Omri O; Lu, Yingchang Y; Ruderfer, Douglas D; Stahl, Eli A EA; Duan, Qing Q; Li, Yun Y; Durda, Peter P; Jiao, Shuo S; Isaacs, Aaron A; Hofman, Albert A; Bis, Joshua C JC; Correa, Adolfo A; Griswold, Michael E ME; Jakobsdottir, Johanna J; Smith, Albert V AV; Schreiner, Pamela J PJ; Feitosa, Mary F MF; Zhang, Qunyuan Q; Huffman, Jennifer E JE; Crosby, Jacy J; Wassel, Christina L CL; Do, Ron R; Franceschini, Nora N; Martin, Lisa W LW; Robinson, Jennifer G JG; Assimes, Themistocles L TL; Crosslin, David R DR; Rosenthal, Elisabeth A EA; Tsai, Michael M; Rieder, Mark J MJ; Farlow, Deborah N DN; Folsom, Aaron R AR; Lumley, Thomas T; Fox, Ervin R ER; Carlson, Christopher S CS; Peters, Ulrike U; Jackson, Rebecca D RD; van Duijn, Cornelia M CM; Uitterlinden, André G AG; Levy, Daniel D; Rotter, Jerome I JI; Taylor, Herman A HA; Gudnason, Vilmundur V; Siscovick, David S DS; Fornage, Myriam M; Borecki, Ingrid B IB; Hayward, Caroline C; Rudan, Igor I; Chen, Y Eugene YE; Bottinger, Erwin P EP; Loos, Ruth J F RJ; Sætrom, Pål P; Hveem, Kristian K; Boehnke, Michael M; Groop, Leif L; McCarthy, Mark M; Meitinger, Thomas T; Ballantyne, Christie M CM; Gabriel, Stacey B SB; O'Donnell, Christopher J CJ; Post, Wendy S WS; North, Kari E KE; Reiner, Alexander P AP; Boerwinkle, Eric E; Psaty, Bruce M BM; Altshuler, David D; Kathiresan, Sekar S; Lin, Dan-Yu DY; Jarvik, Gail P GP; Cupples, L Adrienne LA; Kooperberg, Charles C; Wilson, James G JG; Nickerson, Deborah A DA; Abecasis, Goncalo R GR; Rich, Stephen S SS; Tracy, Russell P RP; Willer, Cristen J CJ; ,
Publication Date: 2014-02-06

Variant appearance in text: PCSK9: 1492G>A; Glu498Lys
PubMed Link: 24507775
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation.

The Journal Of Biological Chemistry
Benjannet, Suzanne S; Hamelin, Josée J; Chrétien, Michel M; Seidah, Nabil G NG
Publication Date: 2012-09-28

Variant appearance in text: PCSK9: E498K
PubMed Link: 22875854
Variant Present in the following documents:
  • Main text
View BVdb publication page