Variant ID: 1-55523802-A-G

NM_174936.3(PCSK9):c.1274A>G;(p.Asn425Ser)

This variant was identified in 12 publications




Publications:


Identifying individual risk rare variants using protein structure guided local tests (POINT).

Plos Computational Biology
R Marceau West, W Lu, DM Rotroff, MA Kuenemann, SM Chang, MC Wu, MJ Wagner, JB Buse, AA Motsinger-Reif, D Fourches, JY Tzeng
Publication Date: 2019-02

Variant appearance in text: PCSK9: N425S; rs28362261
PMID: 30779729
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Replication and fine-mapping of genetic predictors of lipid traits in African-Americans.

Journal Of Human Genetics
Q Feng, WQ Wei, RT Levinson, JD Mosley, CM Stein
Publication Date: 2017-10

Variant appearance in text: rs28362261
PMID: 28539666
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The effect of genetic variation in PCSK9 on the LDL-cholesterol response to statin therapy.

The Pharmacogenomics Journal
Q Feng, WQ Wei, CP Chung, RT Levinson, L Bastarache, JC Denny, CM Stein
Publication Date: 2017-03

Variant appearance in text: PCSK9: N425S; rs28362261
PMID: 26902539
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PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies.

Frontiers In Genetics
NT Tran, S Aslibekyan, HK Tiwari, D Zhi, YJ Sung, SC Hunt, DC Rao, U Broeckel, SE Judd, P Muntner, ST Kent, DK Arnett, MR Irvin
Publication Date: 2015

Variant appearance in text: PCSK9: 1274A>G; N425S; rs28362261
PMID: 25904937
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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: N425S; rs28362261
PMID: 25412415
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Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

American Journal Of Human Genetics
MA Coram, Q Duan, TJ Hoffmann, T Thornton, JW Knowles, NA Johnson, HM Ochs-Balcom, TA Donlon, LW Martin, CB Eaton, JG Robinson, NJ Risch, X Zhu, C Kooperberg, Y Li, AP Reiner, H Tang
Publication Date: 2013-06-06

Variant appearance in text: PCSK9: Asn425Ser; rs28362261
PMID: 23726366
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Differential effects of PCSK9 loss of function variants on serum lipid and PCSK9 levels in Caucasian and African Canadian populations.

Lipids In Health And Disease
J Mayne, TC Ooi, A Raymond, M Cousins, L Bernier, T Dewpura, F Sirois, M Mbikay, J Davignon, M Chrétien
Publication Date: 2013-05-10

Variant appearance in text: PCSK9: N425S
PMID: 23663650
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Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.

Plos Genetics
Y Wu, LL Waite, AU Jackson, WH Sheu, S Buyske, D Absher, DK Arnett, E Boerwinkle, LL Bonnycastle, CL Carty, I Cheng, B Cochran, DC Croteau-Chonka, L Dumitrescu, CB Eaton, N Franceschini, X Guo, BE Henderson, LA Hindorff, E Kim, L Kinnunen, P Komulainen, WJ Lee, L Le Marchand, Y Lin, J Lindström, O Lingaas-Holmen, SL Mitchell, N Narisu, JG Robinson, F Schumacher, A Stančáková, J Sundvall, YJ Sung, AJ Swift, WC Wang, L Wilkens, T Wilsgaard, AM Young, LS Adair, CM Ballantyne, P Bůžková, A Chakravarti, FS Collins, D Duggan, AB Feranil, LT Ho, YJ Hung, SC Hunt, K Hveem, JM Juang, AY Kesäniemi, J Kuusisto, M Laakso, TA Lakka, IT Lee, MF Leppert, TC Matise, L Moilanen, I Njølstad, U Peters, T Quertermous, R Rauramaa, JI Rotter, J Saramies, J Tuomilehto, M Uusitupa, TD Wang, M Boehnke, CA Haiman, YD Chen, C Kooperberg, TL Assimes, DC Crawford, CA Hsiung, KE North, KL Mohlke
Publication Date: 2013-03

Variant appearance in text: PCSK9: N425S; rs28362261
PMID: 23555291
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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
S Calandra, P Tarugi, HE Speedy, AF Dean, S Bertolini, CC Shoulders
Publication Date: 2011-11

Variant appearance in text: PCSK9: N425S
PMID: 21862702
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Common and rare gene variants affecting plasma LDL cholesterol.

The Clinical Biochemist. Reviews
JR Burnett, AJ Hooper
Publication Date: 2008-02

Variant appearance in text: PCSK9: N425S
PMID: 18566665
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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: N425S
PMID: 17971861
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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: 1274A>G; N425S
PMID: 16465619
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1274A>G p.Asn425Ser missense_variant 8/12 -
ENST00000490692.1 n.1998A>G - non_coding_transcript_exon_variant 5/8 -
ENST00000543384.1 c.674A>G p.Asn225Ser missense_variant 6/10 -
NM_174936.4 c.1274A>G p.Asn425Ser missense_variant 8/12 -
NR_110451.1 n.933A>G - non_coding_transcript_exon_variant 6/10 -