Variant ID: 1-55524197-A-C

NM_174936.3(PCSK9):c.1380A>C;(p.Val460Val)

This variant was identified in 13 publications




Publications:


PCSK9 Protein and rs562556 Polymorphism Are Associated With Arterial Plaques in Healthy Middle-Aged Population: The STANISLAS Cohort.

Journal Of The American Heart Association
JP Ferreira, C Xhaard, Z Lamiral, M Borges-Canha, JS Neves, C Dandine-Roulland, E LeFloch, JF Deleuze, D Bacq-Daian, E Bozec, N Girerd, JM Boivin, F Zannad, P Rossignol
Publication Date: 2020-04-07

Variant appearance in text: rs540796
PubMed Link: 32208829
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lipid lowering and Alzheimer disease risk: A mendelian randomization study.

Annals Of Neurology
DM Williams, C Finan, AF Schmidt, S Burgess, AD Hingorani
Publication Date: 2020-01

Variant appearance in text: rs540796
PubMed Link: 31714636
Variant Present in the following documents:
  • ANA-87-30-s001.docx
View BVdb publication page



Exome sequencing of Finnish isolates enhances rare-variant association power.

Nature
AE Locke, KM Steinberg, CWK Chiang, SK Service, AS Havulinna, L Stell, M Pirinen, HJ Abel, CC Chiang, RS Fulton, AU Jackson, CJ Kang, KL Kanchi, DC Koboldt, DE Larson, J Nelson, TJ Nicholas, A Pietilä, V Ramensky, D Ray, LJ Scott, HM Stringham, J Vangipurapu, R Welch, P Yajnik, X Yin, JG Eriksson, M Ala-Korpela, MR Järvelin, M Männikkö, H Laivuori, , SK Dutcher, NO Stitziel, RK Wilson, IM Hall, C Sabatti, A Palotie, V Salomaa, M Laakso, S Ripatti, M Boehnke, NB Freimer
Publication Date: 2019-08

Variant appearance in text: rs540796
PubMed Link: 31367044
Variant Present in the following documents:
  • EMS83607-supplement-Supplementary_Tables.xlsx
View BVdb publication page



Risk of Neuropsychiatric Adverse Effects of Lipid-Lowering Drugs: A Mendelian Randomization Study.

The International Journal Of Neuropsychopharmacology
J Alghamdi, S Matou-Nasri, F Alghamdi, S Alghamdi, M Alfadhel, S Padmanabhan
Publication Date: 2018-12-01

Variant appearance in text: rs540796
PubMed Link: 29986042
Variant Present in the following documents:
  • pyy060_suppl_supplementary_tables.xlsx
View BVdb publication page



Association of a 3' untranslated region polymorphism in proprotein convertase subtilisin/kexin type 9 with HIV viral load and CD4+ levels in HIV/hepatitis C virus coinfected women.

Aids (London, England)
MH Kuniholm, H Liang, K Anastos, D Gustafson, S Kassaye, M Nowicki, BE Sha, EJ Pawlowski, SJ Gange, BE Aouizerat, T Pushkarsky, MI Bukrinsky, VR Prasad
Publication Date: 2017-11-28

Variant appearance in text: rs540796
PubMed Link: 29120899
Variant Present in the following documents:
  • NIHMS905481-supplement-Supplemental_Data_File___doc___tif__pdf__etc___1.xlsx
View BVdb publication page



Integrative mutation, haplotype and G × G interaction evidence connects ABGL4, LRP8 and PCSK9 genes to cardiometabolic risk.

Scientific Reports
T Guo, RX Yin, LM Yao, F Huang, L Pan, WX Lin, DZ Yang, SL Pan
Publication Date: 2016-11-17

Variant appearance in text: rs540796
PubMed Link: 27853278
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
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: rs540796
PubMed Link: 25412415
Variant Present in the following documents:
  • Main text
View BVdb publication page



Correlation of PCSK9 gene polymorphism with cerebral ischemic stroke in Xinjiang Han and Uygur populations.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
D Han, J Ma, X Zhang, J Cai, J Li, T Tuerxun, C Hao, L Du, J Lei
Publication Date: 2014-09-30

Variant appearance in text: rs540796
PubMed Link: 25266949
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

Peerj
JA O'Rawe, H Fang, S Rynearson, R Robison, ES Kiruluta, G Higgins, K Eilbeck, MG Reese, GJ Lyon
Publication Date: 2013

Variant appearance in text: rs540796
PubMed Link: 24109560
Variant Present in the following documents:
  • peerj-01-177-s015.xlsx
View BVdb publication page



LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.

European Journal Of Human Genetics : Ejhg
CL Snozek, SA Lagerstedt, TK Khoo, M Rubenfire, WL Isley, LJ Train, LM Baudhuin
Publication Date: 2009-01

Variant appearance in text: PCSK9: Val460Val
PubMed Link: 18648394
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
K Ding, IJ Kullo
Publication Date: 2008-03

Variant appearance in text: rs540796
PubMed Link: 18300938
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

Journal Of Medical Genetics
SE Humphries, RA Whittall, CS Hubbart, S Maplebeck, JA Cooper, AK Soutar, R Naoumova, GR Thompson, M Seed, PN Durrington, JP Miller, DJ Betteridge, HA Neil,
Publication Date: 2006-12

Variant appearance in text: PCSK9: V460V; rs540796
PubMed Link: 17142622
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
IK Kotowski, A Pertsemlidis, A Luke, RS Cooper, GL Vega, JC Cohen, HH Hobbs
Publication Date: 2006-03

Variant appearance in text: PCSK9: V460V
PubMed Link: 16465619
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1380A>C p.Val460= synonymous_variant 9/12 -
ENST00000490692.1 n.2104A>C - non_coding_transcript_exon_variant 6/8 -
ENST00000543384.1 c.728A>C p.Tyr243Ser missense_variant 7/10 -
NM_174936.4 c.1380A>C p.Val460= synonymous_variant 9/12 -
NR_110451.1 n.987A>C - non_coding_transcript_exon_variant 7/10 -