Variant ID: 1-55523867-AGC-TGA

NM_174936.3(PCSK9):c.1339_1341delinsTGA;(p.Ser447*)

This variant was identified in 16 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: S447X
PMID: 32161301
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Quantile-dependent expressivity of postprandial lipemia.

Plos One
PT Williams
Publication Date: 2020

Variant appearance in text: PCSK9: S447X
PMID: 32101585
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Clinical review on triglycerides.

European Heart Journal
U Laufs, KG Parhofer, HN Ginsberg, RA Hegele
Publication Date: 2019-11-25

Variant appearance in text: PCSK9: S447X
PMID: 31764986
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Lipoprotein lipase: new roles for an 'old' enzyme.

Current Opinion In Clinical Nutrition And Metabolic Care
CL Chang
Publication Date: 2019-03

Variant appearance in text: PCSK9: Ser447Ter
PMID: 30648986
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Genetic Determinants of Dyslipidemia in African-Based Populations: A Systematic Review.

Omics : A Journal Of Integrative Biology
JJ Noubiap, EPM Mato, M Guewo-Fokeng, AD Kaze, H Boulenouar, A Wonkam
Publication Date: 2018-12

Variant appearance in text: PCSK9: Ser447Ter
PMID: 30571611
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Genome-wide association study identifies a missense variant at APOA5 for coronary artery disease in Multi-Ethnic Cohorts from Southeast Asia.

Scientific Reports
Y Han, R Dorajoo, X Chang, L Wang, CC Khor, X Sim, CY Cheng, Y Shi, YC Tham, W Zhao, ML Chee, C Sabanayagam, ML Chee, N Tan, TY Wong, ES Tai, J Liu, DYT Goh, JM Yuan, WP Koh, RM van Dam, AF Low, MY Chan, Y Friedlander, CK Heng
Publication Date: 2017-12-20

Variant appearance in text: PCSK9: S447X
PMID: 29263402
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Cardiovascular Gene Therapy: Past, Present, and Future.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy
S Ylä-Herttuala, AH Baker
Publication Date: 2017-05-03

Variant appearance in text: PCSK9: S447X
PMID: 28389321
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Genetics of Lipid and Lipoprotein Disorders and Traits.

Current Genetic Medicine Reports
JS Dron, RA Hegele
Publication Date: 2016

Variant appearance in text: PCSK9: S447X
PMID: 28286704
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Atherosclerosis in 2016: Advances in new therapeutic targets for atherosclerosis.

Nature Reviews. Cardiology
WH Tang, SL Hazen
Publication Date: 2017-01-17

Variant appearance in text: PCSK9: S447*
PMID: 28094270
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Human genetic insights into lipoproteins and risk of cardiometabolic disease.

Current Opinion In Lipidology
NO Stitziel
Publication Date: 2017-04

Variant appearance in text: PCSK9: S447*
PMID: 28059951
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Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.

The New England Journal Of Medicine
, NO Stitziel, KE Stirrups, NG Masca, J Erdmann, PG Ferrario, IR König, PE Weeke, TR Webb, PL Auer, UM Schick, Y Lu, H Zhang, MP Dube, A Goel, M Farrall, GM Peloso, HH Won, R Do, E van Iperen, S Kanoni, J Kruppa, A Mahajan, RA Scott, C Willenberg, PS Braund, JC van Capelleveen, AS Doney, LA Donnelly, R Asselta, PA Merlini, S Duga, N Marziliano, JC Denny, CM Shaffer, NE El-Mokhtari, A Franke, O Gottesman, S Heilmann, C Hengstenberg, P Hoffman, OL Holmen, K Hveem, JH Jansson, KH Jöckel, T Kessler, J Kriebel, KL Laugwitz, E Marouli, N Martinelli, MI McCarthy, NR Van Zuydam, C Meisinger, T Esko, E Mihailov, SA Escher, M Alver, S Moebus, AD Morris, M Müller-Nurasyid, M Nikpay, O Olivieri, LP Lemieux Perreault, A AlQarawi, NR Robertson, KO Akinsanya, DF Reilly, TF Vogt, W Yin, FW Asselbergs, C Kooperberg, RD Jackson, E Stahl, K Strauch, TV Varga, M Waldenberger, L Zeng, AT Kraja, C Liu, GB Ehret, C Newton-Cheh, DI Chasman, R Chowdhury, M Ferrario, I Ford, JW Jukema, F Kee, K Kuulasmaa, BG Nordestgaard, M Perola, D Saleheen, N Sattar, P Surendran, D Tregouet, R Young, JM Howson, AS Butterworth, J Danesh, D Ardissino, EP Bottinger, R Erbel, PW Franks, D Girelli, AS Hall, GK Hovingh, A Kastrati, W Lieb, T Meitinger, WE Kraus, SH Shah, R McPherson, M Orho-Melander, O Melander, A Metspalu, CN Palmer, A Peters, D Rader, MP Reilly, RJ Loos, AP Reiner, DM Roden, JC Tardif, JR Thompson, NJ Wareham, H Watkins, CJ Willer, S Kathiresan, P Deloukas, NJ Samani, H Schunkert
Publication Date: 2016-03-24

Variant appearance in text: PCSK9: S447*
PMID: 26934567
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What can we learn about lipoprotein metabolism and coronary heart disease from studying rare variants?

Current Opinion In Lipidology
JM Jeff, GM Peloso, R Do
Publication Date: 2016-04

Variant appearance in text: PCSK9: S447X
PMID: 26844526
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Antilipidemic Drug Therapy Today and in the Future.

Handbook Of Experimental Pharmacology
W Kramer
Publication Date: 2016

Variant appearance in text: PCSK9: S447X
PMID: 26330256
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The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.

The Lancet. Diabetes & Endocrinology
RA Hegele, HN Ginsberg, MJ Chapman, BG Nordestgaard, JA Kuivenhoven, M Averna, J Borén, E Bruckert, AL Catapano, OS Descamps, GK Hovingh, SE Humphries, PT Kovanen, L Masana, P Pajukanta, KG Parhofer, FJ Raal, KK Ray, RD Santos, AF Stalenhoef, E Stroes, MR Taskinen, A Tybjærg-Hansen, GF Watts, O Wiklund,
Publication Date: 2014-08

Variant appearance in text: PCSK9: S447X
PMID: 24731657
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Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

Arteriosclerosis, Thrombosis, And Vascular Biology
DM Waterworth, SL Ricketts, K Song, L Chen, JH Zhao, S Ripatti, YS Aulchenko, W Zhang, X Yuan, N Lim, J Luan, S Ashford, E Wheeler, EH Young, D Hadley, JR Thompson, PS Braund, T Johnson, M Struchalin, I Surakka, R Luben, KT Khaw, SA Rodwell, RJ Loos, SM Boekholdt, M Inouye, P Deloukas, P Elliott, D Schlessinger, S Sanna, A Scuteri, A Jackson, KL Mohlke, J Tuomilehto, R Roberts, A Stewart, YA Kesäniemi, RW Mahley, SM Grundy, , W McArdle, L Cardon, G Waeber, P Vollenweider, JC Chambers, M Boehnke, GR Abecasis, V Salomaa, MR Järvelin, A Ruokonen, I Barroso, SE Epstein, HH Hakonarson, DJ Rader, MP Reilly, JC Witteman, AS Hall, NJ Samani, DP Strachan, P Barter, CM van Duijn, JS Kooner, L Peltonen, NJ Wareham, R McPherson, V Mooser, MS Sandhu
Publication Date: 2010-11

Variant appearance in text: PCSK9: S447X
PMID: 20864672
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Candidate gene association resource (CARe): design, methods, and proof of concept.

Circulation. Cardiovascular Genetics
K Musunuru, G Lettre, T Young, DN Farlow, JP Pirruccello, KG Ejebe, BJ Keating, Q Yang, MH Chen, N Lapchyk, A Crenshaw, L Ziaugra, A Rachupka, EJ Benjamin, LA Cupples, M Fornage, ER Fox, SR Heckbert, JN Hirschhorn, C Newton-Cheh, MM Nizzari, DN Paltoo, GJ Papanicolaou, SR Patel, BM Psaty, DJ Rader, S Redline, SS Rich, JI Rotter, HA Taylor, RP Tracy, RS Vasan, JG Wilson, S Kathiresan, RR Fabsitz, E Boerwinkle, SB Gabriel,
Publication Date: 2010-06

Variant appearance in text: PCSK9: Ser447X
PMID: 20400780
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1339_1341delinsTGA p.Ser447* stop_gained 8/12 -
ENST00000490692.1 n.2063_2065delinsTGA - non_coding_transcript_exon_variant 5/8 -
ENST00000543384.1 c.702+37_702+39delinsTGA - intron_variant - 6/9
NM_174936.4 c.1339_1341delinsTGA p.Ser447* stop_gained 8/12 -
NR_110451.1 n.961+37_961+39delinsTGA - intron_variant,non_coding_transcript_variant - 6/9