Variant ID: 1-55512222-C-A

NM_174936.3(PCSK9):c.426C>A;(p.Y142*)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Insight into the Evolving Role of PCSK9.

Metabolites
Maligłówka, Mateusz M; Kosowski, Michał M; Hachuła, Marcin M; Cyrnek, Marcin M; Bułdak, Łukasz Ł; Basiak, Marcin M; Bołdys, Aleksandra A; Machnik, Grzegorz G; Bułdak, Rafał Jakub RJ; Okopień, Bogusław B
Publication Date: 2022-03-17

Variant appearance in text: PCSK9: Y142X
PubMed Link: 35323699
Variant Present in the following documents:
  • metabolites-12-00256.pdf
View BVdb publication page



The Emerging Roles of Intracellular PCSK9 and Their Implications in Endoplasmic Reticulum Stress and Metabolic Diseases.

Metabolites
Lebeau, Paul F PF; Platko, Khrystyna K; Byun, Jae Hyun JH; Makda, Yumna Y; Austin, Richard C RC
Publication Date: 2022-02-26

Variant appearance in text: PCSK9: Y142X
PubMed Link: 35323658
Variant Present in the following documents:
  • metabolites-12-00215.pdf
View BVdb publication page



The PCSK9 discovery, an inactive protease with varied functions in hypercholesterolemia, viral infections, and cancer.

Journal Of Lipid Research
Seidah, Nabil G NG
Publication Date: 2021-10-01

Variant appearance in text: PCSK9: Y142X
PubMed Link: 34606887
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.

Nature Communications
Goodrich, Julia K JK; Singer-Berk, Moriel M; Son, Rachel R; Sveden, Abigail A; Wood, Jordan J; England, Eleina E; Cole, Joanne B JB; Weisburd, Ben B; Watts, Nick N; Caulkins, Lizz L; Dornbos, Peter P; Koesterer, Ryan R; Zappala, Zachary Z; Zhang, Haichen H; Maloney, Kristin A KA; Dahl, Andy A; Aguilar-Salinas, Carlos A CA; Atzmon, Gil G; Barajas-Olmos, Francisco F; Barzilai, Nir N; Blangero, John J; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Bottinger, Erwin E; Bowden, Donald W DW; Centeno-Cruz, Federico F; Chambers, John C JC; Chami, Nathalie N; Chan, Edmund E; Chan, Juliana J; Cheng, Ching-Yu CY; Cho, Yoon Shin YS; Contreras-Cubas, Cecilia C; Córdova, Emilio E; Correa, Adolfo A; DeFronzo, Ralph A RA; Duggirala, Ravindranath R; Dupuis, Josée J; Garay-Sevilla, Ma Eugenia ME; García-Ortiz, Humberto H; Gieger, Christian C; Glaser, Benjamin B; González-Villalpando, Clicerio C; Gonzalez, Ma Elena ME; Grarup, Niels N; Groop, Leif L; Gross, Myron M; Haiman, Christopher C; Han, Sohee S; Hanis, Craig L CL; Hansen, Torben T; Heard-Costa, Nancy L NL; Henderson, Brian E BE; Hernandez, Juan Manuel Malacara JMM; Hwang, Mi Yeong MY; Islas-Andrade, Sergio S; Jørgensen, Marit E ME; Kang, Hyun Min HM; Kim, Bong-Jo BJ; Kim, Young Jin YJ; Koistinen, Heikki A HA; Kooner, Jaspal Singh JS; Kuusisto, Johanna J; Kwak, Soo-Heon SH; Laakso, Markku M; Lange, Leslie L; Lee, Jong-Young JY; Lee, Juyoung J; Lehman, Donna M DM; Linneberg, Allan A; Liu, Jianjun J; Loos, Ruth J F RJF; Lyssenko, Valeriya V; Ma, Ronald C W RCW; Martínez-Hernández, Angélica A; Meigs, James B JB; Meitinger, Thomas T; Mendoza-Caamal, Elvia E; Mohlke, Karen L KL; Morris, Andrew D AD; Morrison, Alanna C AC; Ng, Maggie C Y MCY; Nilsson, Peter M PM; O'Donnell, Christopher J CJ; Orozco, Lorena L; Palmer, Colin N A CNA; Park, Kyong Soo KS; Post, Wendy S WS; Pedersen, Oluf O; Preuss, Michael M; Psaty, Bruce M BM; Reiner, Alexander P AP; Revilla-Monsalve, Cristina C; Rich, Stephen S SS; Rotter, Jerome I JI; Saleheen, Danish D; Schurmann, Claudia C; Sim, Xueling X; Sladek, Rob R; Small, Kerrin S KS; So, Wing Yee WY; Spector, Timothy D TD; Strauch, Konstantin K; Strom, Tim M TM; Tai, E Shyong ES; Tam, Claudia H T CHT; Teo, Yik Ying YY; Thameem, Farook F; Tomlinson, Brian B; Tracy, Russell P RP; Tuomi, Tiinamaija T; Tuomilehto, Jaakko J; Tusié-Luna, Teresa T; van Dam, Rob M RM; Vasan, Ramachandran S RS; Wilson, James G JG; Witte, Daniel R DR; Wong, Tien-Yin TY; , ; Burtt, Noël P NP; Zaitlen, Noah N; McCarthy, Mark I MI; Boehnke, Michael M; Pollin, Toni I TI; Flannick, Jason J; Mercader, Josep M JM; O'Donnell-Luria, Anne A; Baxter, Samantha S; Florez, Jose C JC; MacArthur, Daniel G DG; Udler, Miriam S MS
Publication Date: 2021-06-09

Variant appearance in text: PCSK9: Tyr142Ter
PubMed Link: 34108472
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_23556.pdf
View BVdb publication page



Review of How Genetic Research on Segmental Progeroid Syndromes Has Documented Genomic Instability as a Hallmark of Aging But Let Us Now Pursue Antigeroid Syndromes!

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences
Martin, George M GM; Hisama, Fuki M FM; Oshima, Junko J
Publication Date: 2021-01-18

Variant appearance in text: PCSK9: Tyr142*
PubMed Link: 33295962
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Frontiers In Neuroscience
O'Connell, Emma M EM; Lohoff, Falk W FW
Publication Date: 2020

Variant appearance in text: PCSK9: Y142X
PubMed Link: 32595449
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Emerging Role of PCSK9 Inhibitors in Preventive Cardiology.

European Cardiology
Pitts, Reynaria N RN; Eckel, Robert H RH
Publication Date: 2014-12

Variant appearance in text: PCSK9: Y142X
PubMed Link: 30310488
Variant Present in the following documents:
  • Main text
View BVdb publication page



A rare coding allele in IFIH1 is protective for psoriatic arthritis.

Annals Of The Rheumatic Diseases
Budu-Aggrey, Ashley A; Bowes, John J; Stuart, Philip E PE; Zawistowski, Matthew M; Tsoi, Lam C LC; Nair, Rajan R; Jadon, Deepak Rohit DR; McHugh, Neil N; Korendowych, Eleanor E; Elder, James T JT; Barton, Anne A; Raychaudhuri, Soumya S
Publication Date: 2017-07

Variant appearance in text: PCSK9: Y142X
PubMed Link: 28501801
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human genetic insights into lipoproteins and risk of cardiometabolic disease.

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

Variant appearance in text: PCSK9: Y142*
PubMed Link: 28059951
Variant Present in the following documents:
  • Main text
View BVdb publication page



The impact of genome-wide association studies on the pathophysiology and therapy of cardiovascular disease.

Embo Molecular Medicine
Kessler, Thorsten T; Vilne, Baiba B; Schunkert, Heribert H
Publication Date: 2016-07

Variant appearance in text: PCSK9: Y142X
PubMed Link: 27189168
Variant Present in the following documents:
  • Main text
View BVdb publication page



What can we learn about lipoprotein metabolism and coronary heart disease from studying rare variants?

Current Opinion In Lipidology
Jeff, Janina M JM; Peloso, Gina M GM; Do, Ron R
Publication Date: 2016-04

Variant appearance in text: PCSK9: Y142X
PubMed Link: 26844526
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing and complex disease: practical aspects of rare variant association studies.

Human Molecular Genetics
Do, Ron R; Kathiresan, Sekar S; Abecasis, Gonçalo R GR
Publication Date: 2012-10-15

Variant appearance in text: PCSK9: Y142X
PubMed Link: 22983955
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sequencing of Lp-PLA2-encoding PLA2G7 gene in 2000 Europeans reveals several rare loss-of-function mutations.

The Pharmacogenomics Journal
Song, K K; Nelson, M R MR; Aponte, J J; Manas, E S ES; Bacanu, S-A SA; Yuan, X X; Kong, X X; Cardon, L L; Mooser, V E VE; Whittaker, J C JC; Waterworth, D M DM
Publication Date: 2012-10

Variant appearance in text: PCSK9: Y142X
PubMed Link: 21606947
Variant Present in the following documents:
  • Main text
View BVdb publication page



Testing for an unusual distribution of rare variants.

Plos Genetics
Neale, Benjamin M BM; Rivas, Manuel A MA; Voight, Benjamin F BF; Altshuler, David D; Devlin, Bernie B; Orho-Melander, Marju M; Kathiresan, Sekar S; Purcell, Shaun M SM; Roeder, Kathryn K; Daly, Mark J MJ
Publication Date: 2011-03

Variant appearance in text: PCSK9: Y142X
PubMed Link: 21408211
Variant Present in the following documents:
  • Main text
View BVdb publication page



Adaptive genetic variation and heart disease risk.

Current Opinion In Lipidology
Parnell, Laurence D LD; Lee, Yu-Chi YC; Lai, Chao-Qiang CQ
Publication Date: 2010-04

Variant appearance in text: PCSK9: Y142X
PubMed Link: 20154611
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lipoproteins, cholesterol homeostasis and cardiac health.

International Journal Of Biological Sciences
Daniels, Tyler F TF; Killinger, Karen M KM; Michal, Jennifer J JJ; Wright, Raymond W RW; Jiang, Zhihua Z
Publication Date: 2009-06-29

Variant appearance in text: PCSK9: Y142X
PubMed Link: 19584955
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low density lipoprotein receptor polymorphisms and the risk of coronary heart disease: the Atherosclerosis Risk in Communities Study.

Journal Of Thrombosis And Haemostasis : Jth
Franceschini, N N; Muallem, H H; Rose, K M KM; Boerwinkle, E E; Maeda, N N
Publication Date: 2009-03

Variant appearance in text: PCSK9: Y142X
PubMed Link: 19087220
Variant Present in the following documents:
  • Main text
View BVdb publication page