PCSK9 c.1864G>A ;(p.V622M)

Variant ID: 1-55529042-G-A

NM_174936.3(PCSK9):c.1864G>A;(p.V622M)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Oncosuppressive miRNAs loaded in lipid nanoparticles potentiate targeted therapies in BRAF-mutant melanoma by inhibiting core escape pathways of resistance.

Oncogene
Fattore, Luigi L; Cafaro, Giordana G; Di Martile, Marta M; Campani, Virginia V; Sacconi, Andrea A; Liguoro, Domenico D; Marra, Emanuele E; Bruschini, Sara S; Stoppoloni, Daniela D; Cirombella, Roberto R; De Nicola, Francesca F; Pallocca, Matteo M; Ruggiero, Ciro F CF; Castaldo, Vittorio V; Catizone, Angiolina A; Del Bufalo, Donatella D; Viglietto, Giuseppe G; Vecchione, Andrea A; Blandino, Giovanni G; Aurisicchio, Luigi L; Fanciulli, Maurizio M; Ascierto, Paolo A PA; De Rosa, Giuseppe G; Mancini, Rita R; Ciliberto, Gennaro G
Publication Date: 2022-11-23

Variant appearance in text: PCSK9: 1864G>A; Val622Met
PubMed Link: 36418472
Variant Present in the following documents:
  • 41388_2022_2547_MOESM14_ESM.xlsx, sheet 1
  • 41388_2022_2547_MOESM14_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: 1864G>A; V622M
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: PCSK9: V622M
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

Bmc Medical Genetics
Zakharova, Faina M FM; Damgaard, Dorte D; Mandelshtam, Michail Y MY; Golubkov, Valery I VI; Nissen, Peter H PH; Nilsen, Gitte G GG; Stenderup, Anette A; Lipovetsky, Boris M BM; Konstantinov, Vladimir O VO; Denisenko, Alexander D AD; Vasilyev, Vadim B VB; Faergeman, Ole O
Publication Date: 2005-02-08

Variant appearance in text: PCSK9: 1864G>A
PubMed Link: 15701167
Variant Present in the following documents:
  • Main text
  • 1471-2350-6-6.pdf
View BVdb publication page