Variant ID: 1-55523865-C-T

NM_174936.3(PCSK9):c.1337C>T;(p.Pro446Leu)

This variant was identified in 6 publications




Publications:


Gene-environment interactions due to quantile-specific heritability of triglyceride and VLDL concentrations.

Scientific Reports
PT Williams
Publication Date: 2020-03-11

Variant appearance in text: PCSK9: P446L
PMID: 32161301
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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: P446L
PMID: 23555291
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Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

American Journal Of Human Genetics
PJ Talmud, F Drenos, S Shah, T Shah, J Palmen, C Verzilli, TR Gaunt, J Pallas, R Lovering, K Li, JP Casas, R Sofat, M Kumari, S Rodriguez, T Johnson, SJ Newhouse, A Dominiczak, NJ Samani, M Caulfield, P Sever, A Stanton, DC Shields, S Padmanabhan, O Melander, C Hastie, C Delles, S Ebrahim, MG Marmot, GD Smith, DA Lawlor, PB Munroe, IN Day, M Kivimaki, J Whittaker, SE Humphries, AD Hingorani, , ,
Publication Date: 2009-11

Variant appearance in text: PCSK9: P446L
PMID: 19913121
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Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication.

Circulation. Cardiovascular Genetics
DI Chasman, G Paré, RY Zee, AN Parker, NR Cook, JE Buring, DJ Kwiatkowski, LM Rose, JD Smith, PT Williams, MJ Rieder, JI Rotter, DA Nickerson, RM Krauss, JP Miletich, PM Ridker
Publication Date: 2008-10

Variant appearance in text: PCSK9: P446L
PMID: 19802338
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Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

Proceedings Of The National Academy Of Sciences Of The United States Of America
LA Hindorff, P Sethupathy, HA Junkins, EM Ramos, JP Mehta, FS Collins, TA Manolio
Publication Date: 2009-06-09

Variant appearance in text: PCSK9: P446L
PMID: 19474294
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Common variants at 30 loci contribute to polygenic dyslipidemia.

Nature Genetics
S Kathiresan, CJ Willer, GM Peloso, S Demissie, K Musunuru, EE Schadt, L Kaplan, D Bennett, Y Li, T Tanaka, BF Voight, LL Bonnycastle, AU Jackson, G Crawford, A Surti, C Guiducci, NP Burtt, S Parish, R Clarke, D Zelenika, KA Kubalanza, MA Morken, LJ Scott, HM Stringham, P Galan, AJ Swift, J Kuusisto, RN Bergman, J Sundvall, M Laakso, L Ferrucci, P Scheet, S Sanna, M Uda, Q Yang, KL Lunetta, J Dupuis, PI de Bakker, CJ O'Donnell, JC Chambers, JS Kooner, S Hercberg, P Meneton, EG Lakatta, A Scuteri, D Schlessinger, J Tuomilehto, FS Collins, L Groop, D Altshuler, R Collins, GM Lathrop, O Melander, V Salomaa, L Peltonen, M Orho-Melander, JM Ordovas, M Boehnke, GR Abecasis, KL Mohlke, LA Cupples
Publication Date: 2009-01

Variant appearance in text: PCSK9: P446L
PMID: 19060906
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1337C>T p.Pro446Leu missense_variant 8/12 -
ENST00000490692.1 n.2061C>T - non_coding_transcript_exon_variant 5/8 -
ENST00000543384.1 c.702+35C>T - intron_variant - 6/9
NM_174936.4 c.1337C>T p.Pro446Leu missense_variant 8/12 -
NR_110451.1 n.961+35C>T - intron_variant,non_coding_transcript_variant - 6/9