Variant ID: 1-55518374-C-T


This variant was identified in 9 publications


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

Frontiers In Neuroscience
EM O'Connell, FW Lohoff
Publication Date: 2020

Variant appearance in text: rs148195424
PMID: 32595449
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.)
M Benn, BG Nordestgaard, R Frikke-Schmidt, A Tybjærg-Hansen
Publication Date: 2017-04-24

Variant appearance in text: PCSK9: R237W; rs148195424
PMID: 28438747
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
CW Tsai, KE North, A Tin, K Haack, N Franceschini, V Saroja Voruganti, S Laston, Y Zhang, LG Best, JW MacCluer, TH Beaty, A Navas-Acien, WH Kao, BV Howard
Publication Date: 2015-02

Variant appearance in text: PCSK9: R237W
PMID: 25412415
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
YG Ni, S Di Marco, JH Condra, LB Peterson, W Wang, F Wang, S Pandit, HA Hammond, R Rosa, RT Cummings, DD Wood, X Liu, MJ Bottomley, X Shen, RM Cubbon, SP Wang, DG Johns, C Volpari, L Hamuro, J Chin, L Huang, JZ Zhao, S Vitelli, P Haytko, D Wisniewski, LJ Mitnaul, CP Sparrow, B Hubbard, A Carfí, A Sitlani
Publication Date: 2011-01

Variant appearance in text: PCSK9: Arg237Trp
PMID: 20959675
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
S Benjannet, YG Saavedra, J Hamelin, MC Asselin, R Essalmani, A Pasquato, P Lemaire, G Duke, B Miao, F Duclos, R Parker, G Mayer, NG Seidah
Publication Date: 2010-12-24

Variant appearance in text: PCSK9: R237W
PMID: 20937814
View BVdb publication page

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

Pharmacogenetics And Genomics
K Ding, IJ Kullo
Publication Date: 2008-03

Variant appearance in text: PCSK9: R237W
PMID: 18300938
View BVdb publication page

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

D Fan, PG Yancey, S Qiu, L Ding, EJ Weeber, MF Linton, S Fazio
Publication Date: 2008-02-12

Variant appearance in text: PCSK9: R237W
PMID: 18197702
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
K Ding, SJ McDonough, IJ Kullo
Publication Date: 2007-10-31

Variant appearance in text: PCSK9: R237W
PMID: 17971861
View BVdb publication page

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

American Journal Of Human Genetics
IK Kotowski, A Pertsemlidis, A Luke, RS Cooper, GL Vega, JC Cohen, HH Hobbs
Publication Date: 2006-03

Variant appearance in text: PCSK9: 709C>T; R237W
PMID: 16465619
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.709C>T p.Arg237Trp missense_variant 5/12 -
ENST00000452118.2 c.*353C>T - 3_prime_UTR_variant 6/6 -
ENST00000490692.1 n.1530C>T - non_coding_transcript_exon_variant 2/8 -
ENST00000543384.1 c.109C>T p.Arg37Trp missense_variant 3/10 -
NM_174936.4 c.709C>T p.Arg237Trp missense_variant 5/12 -
NR_110451.1 n.368C>T - non_coding_transcript_exon_variant 3/10 -