PCSK9 c.721G>A ;(p.V241M)

Variant ID: 1-55518386-G-A

NM_174936.3(PCSK9):c.721G>A;(p.V241M)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications
Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM
Publication Date: 2022-06-29

Variant appearance in text: PCSK9: 721G>A; Val241Met; rs147478188
PubMed Link: 35768438
Variant Present in the following documents:
  • 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1
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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: rs147478188
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: PCSK9: V241M
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
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: 721G>A; Val241Met
PubMed Link: 24507775
Variant Present in the following documents:
  • Main text
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