Variant ID: 11-117089205-C-T

NM_004716.2(PCSK7):c.1511G>A;(p.Arg504His)

This variant was identified in 9 publications




Publications:


Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study.

Plos Genetics
Y Hu, M Graff, J Haessler, S Buyske, SA Bien, R Tao, HM Highland, KK Nishimura, N Zubair, Y Lu, M Verbanck, AT Hilliard, D Klarin, SM Damrauer, YL Ho, , PWF Wilson, KM Chang, PS Tsao, K Cho, CJ O'Donnell, TL Assimes, LE Petty, JE Below, O Dikilitas, DJ Schaid, ML Kosel, IJ Kullo, LJ Rasmussen-Torvik, GP Jarvik, Q Feng, WQ Wei, EB Larson, FD Mentch, B Almoguera, PM Sleiman, LM Raffield, A Correa, LW Martin, M Daviglus, TC Matise, JL Ambite, CS Carlson, R Do, RJF Loos, LR Wilkens, L Le Marchand, C Haiman, DO Stram, LA Hindorff, KE North, C Kooperberg, I Cheng, U Peters
Publication Date: 2020-03

Variant appearance in text: rs142953140
PubMed Link: 32226016
Variant Present in the following documents:
  • Main text
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Building bridges: PCSK7 as a NAFLD candidate gene connecting hepatic inflammation with hypertriglyceridemia.

Journal Of Lipid Research
RM Carr, NO Davidson
Publication Date: 2019-06

Variant appearance in text: rs142953140
PubMed Link: 31023721
Variant Present in the following documents:
  • Main text
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PCSK7 gene variation bridges atherogenic dyslipidemia with hepatic inflammation in NAFLD patients.

Journal Of Lipid Research
P Dongiovanni, M Meroni, G Baselli, RM Mancina, M Ruscica, M Longo, R Rametta, A Cespiati, S Pelusi, N Ferri, V Ranzani, V Nobili, J Pihlajamaki, AL Fracanzani, S Badiali, S Petta, S Fargion, S Romeo, J Kozlitina, L Valenti
Publication Date: 2019-06

Variant appearance in text: PCSK7: 1511G>A; rs142953140
PubMed Link: 30918065
Variant Present in the following documents:
  • Main text
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Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

Nature Genetics
R Sims, SJ van der Lee, AC Naj, C Bellenguez, N Badarinarayan, J Jakobsdottir, BW Kunkle, A Boland, R Raybould, JC Bis, ER Martin, B Grenier-Boley, S Heilmann-Heimbach, V Chouraki, AB Kuzma, K Sleegers, M Vronskaya, A Ruiz, RR Graham, R Olaso, P Hoffmann, ML Grove, BN Vardarajan, M Hiltunen, MM Nöthen, CC White, KL Hamilton-Nelson, J Epelbaum, W Maier, SH Choi, GW Beecham, C Dulary, S Herms, AV Smith, CC Funk, C Derbois, AJ Forstner, S Ahmad, H Li, D Bacq, D Harold, CL Satizabal, O Valladares, A Squassina, R Thomas, JA Brody, L Qu, P Sánchez-Juan, T Morgan, FJ Wolters, Y Zhao, FS Garcia, N Denning, M Fornage, J Malamon, MCD Naranjo, E Majounie, TH Mosley, B Dombroski, D Wallon, MK Lupton, J Dupuis, P Whitehead, L Fratiglioni, C Medway, X Jian, S Mukherjee, L Keller, K Brown, H Lin, LB Cantwell, F Panza, B McGuinness, S Moreno-Grau, JD Burgess, V Solfrizzi, P Proitsi, HH Adams, M Allen, D Seripa, P Pastor, LA Cupples, ND Price, D Hannequin, A Frank-García, D Levy, P Chakrabarty, P Caffarra, I Giegling, AS Beiser, V Giedraitis, H Hampel, ME Garcia, X Wang, L Lannfelt, P Mecocci, G Eiriksdottir, PK Crane, F Pasquier, V Boccardi, I Henández, RC Barber, M Scherer, L Tarraga, PM Adams, M Leber, Y Chen, MS Albert, S Riedel-Heller, V Emilsson, D Beekly, A Braae, R Schmidt, D Blacker, C Masullo, H Schmidt, RS Doody, G Spalletta, WT Longstreth, TJ Fairchild, P Bossù, OL Lopez, MP Frosch, E Sacchinelli, B Ghetti, Q Yang, RM Huebinger, F Jessen, S Li, MI Kamboh, J Morris, O Sotolongo-Grau, MJ Katz, C Corcoran, M Dunstan, A Braddel, C Thomas, A Meggy, R Marshall, A Gerrish, J Chapman, M Aguilar, S Taylor, M Hill, MD Fairén, A Hodges, B Vellas, H Soininen, I Kloszewska, M Daniilidou, J Uphill, Y Patel, JT Hughes, J Lord, J Turton, AM Hartmann, R Cecchetti, C Fenoglio, M Serpente, M Arcaro, C Caltagirone, MD Orfei, A Ciaramella, S Pichler, M Mayhaus, W Gu, A Lleó, J Fortea, R Blesa, IS Barber, K Brookes, C Cupidi, RG Maletta, D Carrell, S Sorbi, S Moebus, M Urbano, A Pilotto, J Kornhuber, P Bosco, S Todd, D Craig, J Johnston, M Gill, B Lawlor, A Lynch, NC Fox, J Hardy, , RL Albin, LG Apostolova, SE Arnold, S Asthana, CS Atwood, CT Baldwin, LL Barnes, S Barral, TG Beach, JT Becker, EH Bigio, TD Bird, BF Boeve, JD Bowen, A Boxer, JR Burke, JM Burns, JD Buxbaum, NJ Cairns, C Cao, CS Carlson, CM Carlsson, RM Carney, MM Carrasquillo, SL Carroll, CC Diaz, HC Chui, DG Clark, DH Cribbs, EA Crocco, C DeCarli, M Dick, R Duara, DA Evans, KM Faber, KB Fallon, DW Fardo, MR Farlow, S Ferris, TM Foroud, DR Galasko, M Gearing, DH Geschwind, JR Gilbert, NR Graff-Radford, RC Green, JH Growdon, RL Hamilton, LE Harrell, LS Honig, MJ Huentelman, CM Hulette, BT Hyman, GP Jarvik, E Abner, LW Jin, G Jun, A Karydas, JA Kaye, R Kim, NW Kowall, JH Kramer, FM LaFerla, JJ Lah, JB Leverenz, AI Levey, G Li, AP Lieberman, KL Lunetta, CG Lyketsos, DC Marson, F Martiniuk, DC Mash, E Masliah, WC McCormick, SM McCurry, AN McDavid, AC McKee, M Mesulam, BL Miller, CA Miller, JW Miller, JC Morris, JR Murrell, AJ Myers, S O'Bryant, JM Olichney, VS Pankratz, JE Parisi, HL Paulson, W Perry, E Peskind, A Pierce, WW Poon, H Potter, JF Quinn, A Raj, M Raskind, B Reisberg, C Reitz, JM Ringman, ED Roberson, E Rogaeva, HJ Rosen, RN Rosenberg, MA Sager, AJ Saykin, JA Schneider, LS Schneider, WW Seeley, AG Smith, JA Sonnen, S Spina, RA Stern, RH Swerdlow, RE Tanzi, TA Thornton-Wells, JQ Trojanowski, JC Troncoso, VM Van Deerlin, LJ Van Eldik, HV Vinters, JP Vonsattel, S Weintraub, KA Welsh-Bohmer, KC Wilhelmsen, J Williamson, TS Wingo, RL Woltjer, CB Wright, CE Yu, L Yu, F Garzia, F Golamaully, G Septier, S Engelborghs, R Vandenberghe, PP De Deyn, CM Fernadez, YA Benito, H Thonberg, C Forsell, L Lilius, A Kinhult-Stählbom, L Kilander, R Brundin, L Concari, S Helisalmi, AM Koivisto, A Haapasalo, V Dermecourt, N Fievet, O Hanon, C Dufouil, A Brice, K Ritchie, B Dubois, JJ Himali, CD Keene, J Tschanz, AL Fitzpatrick, WA Kukull, M Norton, T Aspelund, EB Larson, R Munger, JI Rotter, RB Lipton, MJ Bullido, A Hofman, TJ Montine, E Coto, E Boerwinkle, RC Petersen, V Alvarez, F Rivadeneira, EM Reiman, M Gallo, CJ O'Donnell, JS Reisch, AC Bruni, DR Royall, M Dichgans, M Sano, D Galimberti, P St George-Hyslop, E Scarpini, DW Tsuang, M Mancuso, U Bonuccelli, AR Winslow, A Daniele, CK Wu, , O Peters, B Nacmias, M Riemenschneider, R Heun, C Brayne, DC Rubinsztein, J Bras, R Guerreiro, A Al-Chalabi, CE Shaw, J Collinge, D Mann, M Tsolaki, J Clarimón, R Sussams, S Lovestone, MC O'Donovan, MJ Owen, TW Behrens, S Mead, AM Goate, AG Uitterlinden, C Holmes, C Cruchaga, M Ingelsson, DA Bennett, J Powell, TE Golde, C Graff, PL De Jager, K Morgan, N Ertekin-Taner, O Combarros, BM Psaty, P Passmore, SG Younkin, C Berr, V Gudnason, D Rujescu, DW Dickson, JF Dartigues, AL DeStefano, S Ortega-Cubero, H Hakonarson, D Campion, M Boada, JK Kauwe, LA Farrer, C Van Broeckhoven, MA Ikram, L Jones, JL Haines, C Tzourio, LJ Launer, V Escott-Price, R Mayeux, JF Deleuze, N Amin, PA Holmans, MA Pericak-Vance, P Amouyel, CM van Duijn, A Ramirez, LS Wang, JC Lambert, S Seshadri, J Williams, GD Schellenberg
Publication Date: 2017-09

Variant appearance in text: PCSK7: 1511G>A; Arg504His; rs142953140
PubMed Link: 28714976
Variant Present in the following documents:
  • NIHMS894471-supplement-Supplementary_Figures_1-15.doc
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The impact of rare and low-frequency genetic variants in common disease.

Genome Biology
L Bomba, K Walter, N Soranzo
Publication Date: 2017-04-27

Variant appearance in text: rs142953140
PubMed Link: 28449691
Variant Present in the following documents:
  • 13059_2017_1212_MOESM1_ESM.xlsx
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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: rs142953140
PubMed Link: 28286704
Variant Present in the following documents:
  • Main text
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Insights into blood lipids from rare variant discovery.

Current Opinion In Genetics & Development
EM Schmidt, CJ Willer
Publication Date: 2015-08

Variant appearance in text: PCSK7: 1511G>A; Arg504His; rs142953140
PubMed Link: 26241468
Variant Present in the following documents:
  • Main text
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Is there a link between proprotein convertase PC7 activity and human lipid homeostasis?

Febs Open Bio
J Guillemot, R Essalmani, J Hamelin, NG Seidah
Publication Date: 2014

Variant appearance in text: PCSK7: 1511G>A; rs142953140
PubMed Link: 25349778
Variant Present in the following documents:
  • Main text
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Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

American Journal Of Human Genetics
GM Peloso, PL Auer, JC Bis, A Voorman, AC Morrison, NO Stitziel, JA Brody, SA Khetarpal, JR Crosby, M Fornage, A Isaacs, J Jakobsdottir, MF Feitosa, G Davies, JE Huffman, A Manichaikul, B Davis, K Lohman, AY Joon, AV Smith, ML Grove, P Zanoni, V Redon, S Demissie, K Lawson, U Peters, C Carlson, RD Jackson, KK Ryckman, RH Mackey, JG Robinson, DS Siscovick, PJ Schreiner, JC Mychaleckyj, JS Pankow, A Hofman, AG Uitterlinden, TB Harris, KD Taylor, JM Stafford, LM Reynolds, RE Marioni, A Dehghan, OH Franco, AP Patel, Y Lu, G Hindy, O Gottesman, EP Bottinger, O Melander, M Orho-Melander, RJ Loos, S Duga, PA Merlini, M Farrall, A Goel, R Asselta, D Girelli, N Martinelli, SH Shah, WE Kraus, M Li, DJ Rader, MP Reilly, R McPherson, H Watkins, D Ardissino, , Q Zhang, J Wang, MY Tsai, HA Taylor, A Correa, ME Griswold, LA Lange, JM Starr, I Rudan, G Eiriksdottir, LJ Launer, JM Ordovas, D Levy, YD Chen, AP Reiner, C Hayward, O Polasek, IJ Deary, IB Borecki, Y Liu, V Gudnason, JG Wilson, CM van Duijn, C Kooperberg, SS Rich, BM Psaty, JI Rotter, CJ O'Donnell, K Rice, E Boerwinkle, S Kathiresan, LA Cupples
Publication Date: 2014-02-06

Variant appearance in text: PCSK7: 1511G>A; Arg504His; rs142953140
PubMed Link: 24507774
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000320934.3 c.1511G>A p.Arg504His missense_variant 12/17 -
ENST00000527037.1 n.1650G>A - non_coding_transcript_exon_variant 1/6 -
ENST00000533135.1 n.189G>A - non_coding_transcript_exon_variant 2/5 -
ENST00000534529.1 n.3541G>A - non_coding_transcript_exon_variant 5/11 -
ENST00000540028.1 c.434G>A p.Arg145His missense_variant 4/10 -
NM_004716.4 c.1511G>A p.Arg504His missense_variant 12/17 -