Variant ID: 1-55518374-C-T

NM_174936.3(PCSK9):c.709C>T;(p.R237W)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Screening for Familial Hypercholesterolemia in Small Towns: Experience from 11 Brazilian Towns in the Hipercolbrasil Program.

Arquivos Brasileiros De Cardiologia
Jannes, Cinthia Elim CE; Silvino, Júnea Paolucci Paiva JPP; Silva, Pãmela Rodrigues de Souza PRS; Lima, Isabella Ramos IR; Tada, Mauricio Teruo MT; Oliveira, Theo Gremen Mimary TGM; Santos, Raul D RD; Krieger, José Eduardo JE; Pereira, Alexandre da Costa ADC
Publication Date: 2022-02-07

Variant appearance in text: PCSK9: Arg237Trp
PubMed Link: 35137788
Variant Present in the following documents:
  • 0066-782X-abc-118-04-0669.pdf
View BVdb publication page



Protective lipid-lowering variants in healthy older individuals without coronary heart disease.

Open Heart
Lacaze, Paul P; Riaz, Moeen M; Sebra, Robert R; Hooper, Amanda J AJ; Pang, Jing J; Tiller, Jane J; Polekhina, Galina G; Tonkin, Andrew A; Reid, Chris C; Zoungas, Sophia S; Murray, Anne M AM; Nicholls, Stephen S; Watts, Gerald G; Schadt, Eric E; McNeil, John J JJ
Publication Date: 2021-07

Variant appearance in text: PCSK9: 709C>T; Arg237Trp; rs148195424
PubMed Link: 34341098
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 709C>T; Arg237Trp; rs148195424
PubMed Link: 33418990
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics
Guo, Qianyun Q; Feng, Xunxun X; Zhou, Yujie Y
Publication Date: 2020

Variant appearance in text: PCSK9: R237W
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in the Brain and Relevance for Neuropsychiatric Disorders.

Frontiers In Neuroscience
O'Connell, Emma M EM; Lohoff, Falk W FW
Publication Date: 2020

Variant appearance in text: rs148195424
PubMed Link: 32595449
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low LDL cholesterol, PCSK9 and HMGCR genetic variation, and risk of Alzheimer's disease and Parkinson's disease: Mendelian randomisation study.

Bmj (Clinical Research Ed.)
Benn, Marianne M; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R; Tybjærg-Hansen, Anne A
Publication Date: 2017-04-24

Variant appearance in text: PCSK9: R237W; rs148195424
PubMed Link: 28438747
Variant Present in the following documents:
  • Main text
View BVdb publication page



Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians.

The Journal Of Clinical Endocrinology And Metabolism
Tsai, Ching-Wei CW; North, Kari E KE; Tin, Adrienne A; Haack, Karin K; Franceschini, Nora N; Saroja Voruganti, V V; Laston, Sandy S; Zhang, Ying Y; Best, Lyle G LG; MacCluer, Jean W JW; Beaty, Terri H TH; Navas-Acien, Ana A; Kao, W H Linda WH; Howard, Barbara V BV
Publication Date: 2015-02

Variant appearance in text: PCSK9: R237W
PubMed Link: 25412415
Variant Present in the following documents:
  • Main text
View BVdb publication page



A PCSK9-binding antibody that structurally mimics the EGF(A) domain of LDL-receptor reduces LDL cholesterol in vivo.

Journal Of Lipid Research
Ni, Yan G YG; Di Marco, Stefania S; Condra, Jon H JH; Peterson, Laurence B LB; Wang, Weirong W; Wang, Fubao F; Pandit, Shilpa S; Hammond, Holly A HA; Rosa, Ray R; Cummings, Richard T RT; Wood, Dana D DD; Liu, Xiaomei X; Bottomley, Matthew J MJ; Shen, Xun X; Cubbon, Rose M RM; Wang, Sheng-ping SP; Johns, Douglas G DG; Volpari, Cinzia C; Hamuro, Lora L; Chin, Jayne J; Huang, Lingyi L; Zhao, Jing Zhang JZ; Vitelli, Salvatore S; Haytko, Peter P; Wisniewski, Douglas D; Mitnaul, Lyndon J LJ; Sparrow, Carl P CP; Hubbard, Brian B; Carfí, Andrea A; Sitlani, Ayesha A
Publication Date: 2011-01

Variant appearance in text: PCSK9: Arg237Trp
PubMed Link: 20959675
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of the prosegment and pH on the activity of PCSK9: evidence for additional processing events.

The Journal Of Biological Chemistry
Benjannet, Suzanne S; Saavedra, Yascara Grisel Luna YG; Hamelin, Josée J; Asselin, Marie-Claude MC; Essalmani, Rachid R; Pasquato, Antonella A; Lemaire, Peter P; Duke, Gerald G; Miao, Bowman B; Duclos, Franck F; Parker, Rex R; Mayer, Gaétan G; Seidah, Nabil G NG
Publication Date: 2010-12-24

Variant appearance in text: PCSK9: R237W
PubMed Link: 20937814
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular population genetics of PCSK9: a signature of recent positive selection.

Pharmacogenetics And Genomics
Ding, Keyue K; Kullo, Iftikhar J IJ
Publication Date: 2008-03

Variant appearance in text: PCSK9: R237W
PubMed Link: 18300938
Variant Present in the following documents:
  • Main text
View BVdb publication page



Self-association of human PCSK9 correlates with its LDLR-degrading activity.

Biochemistry
Fan, Daping D; Yancey, Patricia G PG; Qiu, Shenfeng S; Ding, Lei L; Weeber, Edwin J EJ; Linton, MacRae F MF; Fazio, Sergio S
Publication Date: 2008-02-12

Variant appearance in text: PCSK9: R237W
PubMed Link: 18197702
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evidence for positive selection in the C-terminal domain of the cholesterol metabolism gene PCSK9 based on phylogenetic analysis in 14 primate species.

Plos One
Ding, Keyue K; McDonough, Samantha J SJ; Kullo, Iftikhar J IJ
Publication Date: 2007-10-31

Variant appearance in text: PCSK9: R237W
PubMed Link: 17971861
Variant Present in the following documents:
  • Main text
View BVdb publication page



A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

American Journal Of Human Genetics
Kotowski, Ingrid K IK; Pertsemlidis, Alexander A; Luke, Amy A; Cooper, Richard S RS; Vega, Gloria L GL; Cohen, Jonathan C JC; Hobbs, Helen H HH
Publication Date: 2006-03

Variant appearance in text:
PubMed Link: 16465619
Variant Present in the following documents:
  • Main text
View BVdb publication page