PRKCA c.205+1548C>T

Variant ID: 17-64303793-C-T

NM_002737.2(PRKCA):c.205+1548C>T

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.

Nature Genetics
Tadros, Rafik R; Francis, Catherine C; Xu, Xiao X; Vermeer, Alexa M C AMC; Harper, Andrew R AR; Huurman, Roy R; Kelu Bisabu, Ken K; Walsh, Roddy R; Hoorntje, Edgar T ET; Te Rijdt, Wouter P WP; Buchan, Rachel J RJ; van Velzen, Hannah G HG; van Slegtenhorst, Marjon A MA; Vermeulen, Jentien M JM; Offerhaus, Joost Allard JA; Bai, Wenjia W; de Marvao, Antonio A; Lahrouchi, Najim N; Beekman, Leander L; Karper, Jacco C JC; Veldink, Jan H JH; Kayvanpour, Elham E; Pantazis, Antonis A; Baksi, A John AJ; Whiffin, Nicola N; Mazzarotto, Francesco F; Sloane, Geraldine G; Suzuki, Hideaki H; Schneider-Luftman, Deborah D; Elliott, Paul P; Richard, Pascale P; Ader, Flavie F; Villard, Eric E; Lichtner, Peter P; Meitinger, Thomas T; Tanck, Michael W T MWT; van Tintelen, J Peter JP; Thain, Andrew A; McCarty, David D; Hegele, Robert A RA; Roberts, Jason D JD; Amyot, Julie J; Dubé, Marie-Pierre MP; Cadrin-Tourigny, Julia J; Giraldeau, Geneviève G; L'Allier, Philippe L PL; Garceau, Patrick P; Tardif, Jean-Claude JC; Boekholdt, S Matthijs SM; Lumbers, R Thomas RT; Asselbergs, Folkert W FW; Barton, Paul J R PJR; Cook, Stuart A SA; Prasad, Sanjay K SK; O'Regan, Declan P DP; van der Velden, Jolanda J; Verweij, Karin J H KJH; Talajic, Mario M; Lettre, Guillaume G; Pinto, Yigal M YM; Meder, Benjamin B; Charron, Philippe P; de Boer, Rudolf A RA; Christiaans, Imke I; Michels, Michelle M; Wilde, Arthur A M AAM; Watkins, Hugh H; Matthews, Paul M PM; Ware, James S JS; Bezzina, Connie R CR
Publication Date: 2021-02

Variant appearance in text: rs9892651
PubMed Link: 33495596
Variant Present in the following documents:
  • Main text
  • EMS114661.pdf
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The contribution of non-coding regulatory elements to cardiovascular disease.

Open Biology
Villar, Diego D; Frost, Stephanie S; Deloukas, Panos P; Tinker, Andrew A
Publication Date: 2020-07

Variant appearance in text: rs9892651
PubMed Link: 32603637
Variant Present in the following documents:
  • Main text
  • rsob-10-200088.pdf
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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs9892651
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Improving Interpretation of Cardiac Phenotypes and Enhancing Discovery With Expanded Knowledge in the Gene Ontology.

Circulation. Genomic And Precision Medicine
Lovering, Ruth C RC; Roncaglia, Paola P; Howe, Douglas G DG; Laulederkind, Stanley J F SJF; Khodiyar, Varsha K VK; Berardini, Tanya Z TZ; Tweedie, Susan S; Foulger, Rebecca E RE; Osumi-Sutherland, David D; Campbell, Nancy H NH; Huntley, Rachael P RP; Talmud, Philippa J PJ; Blake, Judith A JA; Breckenridge, Ross R; Riley, Paul R PR; Lambiase, Pier D PD; Elliott, Perry M PM; Clapp, Lucie L; Tinker, Andrew A; Hill, David P DP
Publication Date: 2018-02

Variant appearance in text: rs9892651
PubMed Link: 29440116
Variant Present in the following documents:
  • hcg-11-e001813-s001.pdf
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GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals.

Scientific Reports
Méndez-Giráldez, Raúl R; Gogarten, Stephanie M SM; Below, Jennifer E JE; Yao, Jie J; Seyerle, Amanda A AA; Highland, Heather M HM; Kooperberg, Charles C; Soliman, Elsayed Z EZ; Rotter, Jerome I JI; Kerr, Kathleen F KF; Ryckman, Kelli K KK; Taylor, Kent D KD; Petty, Lauren E LE; Shah, Sanjiv J SJ; Conomos, Matthew P MP; Sotoodehnia, Nona N; Cheng, Susan S; Heckbert, Susan R SR; Sofer, Tamar T; Guo, Xiuqing X; Whitsel, Eric A EA; Lin, Henry J HJ; Hanis, Craig L CL; Laurie, Cathy C CC; Avery, Christy L CL
Publication Date: 2017-12-06

Variant appearance in text: rs9892651
PubMed Link: 29213071
Variant Present in the following documents:
  • 41598_2017_17136_MOESM1_ESM.pdf
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GENomE wide analysis of sotalol-induced IKr inhibition during ventricular REPOLarization, "GENEREPOL study": Lack of common variants with large effect sizes.

Plos One
Salem, Joe-Elie JE; Germain, Marine M; Hulot, Jean-Sébastien JS; Voiriot, Pascal P; Lebourgeois, Bruno B; Waldura, Jean J; Tregouet, David-Alexandre DA; Charbit, Beny B; Funck-Brentano, Christian C
Publication Date: 2017

Variant appearance in text: rs9892651
PubMed Link: 28800628
Variant Present in the following documents:
  • pone.0181875.s004.xlsx, sheet 1
View BVdb publication page



Regulatory Variants Modulate Protein Kinase C α (PRKCA) Gene Expression in Human Heart.

Pharmaceutical Research
Li, Liang L; Zhang, Lizhi L; Binkley, Philip F PF; Sadee, Wolfgang W; Wang, Danxin D
Publication Date: 2017-08

Variant appearance in text: rs9892651
PubMed Link: 28120175
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fine mapping of QT interval regions in global populations refines previously identified QT interval loci and identifies signals unique to African and Hispanic descent populations.

Heart Rhythm
Avery, Christy L CL; Wassel, Christina L CL; Richard, Melissa A MA; Highland, Heather M HM; Bien, Stephanie S; Zubair, Niha N; Soliman, Elsayed Z EZ; Fornage, Myriam M; Bielinski, Suzette J SJ; Tao, Ran R; Seyerle, Amanda A AA; Shah, Sanjiv J SJ; Lloyd-Jones, Donald M DM; Buyske, Steven S; Rotter, Jerome I JI; Post, Wendy S WS; Rich, Stephen S SS; Hindorff, Lucia A LA; Jeff, Janina M JM; Shohet, Ralph V RV; Sotoodehnia, Nona N; Lin, Dan Yu DY; Whitsel, Eric A EA; Peters, Ulrike U; Haiman, Christopher A CA; Crawford, Dana C DC; Kooperberg, Charles C; North, Kari E KE
Publication Date: 2017-04

Variant appearance in text: rs9892651
PubMed Link: 27988371
Variant Present in the following documents:
  • Main text
View BVdb publication page



Large-scale pharmacogenomic study of sulfonylureas and the QT, JT and QRS intervals: CHARGE Pharmacogenomics Working Group.

The Pharmacogenomics Journal
Floyd, J S JS; Sitlani, C M CM; Avery, C L CL; Noordam, R R; Li, X X; Smith, A V AV; Gogarten, S M SM; Li, J J; Broer, L L; Evans, D S DS; Trompet, S S; Brody, J A JA; Stewart, J D JD; Eicher, J D JD; Seyerle, A A AA; Roach, J J; Lange, L A LA; Lin, H J HJ; Kors, J A JA; Harris, T B TB; Li-Gao, R R; Sattar, N N; Cummings, S R SR; Wiggins, K L KL; Napier, M D MD; Stürmer, T T; Bis, J C JC; Kerr, K F KF; Uitterlinden, A G AG; Taylor, K D KD; Stott, D J DJ; de Mutsert, R R; Launer, L J LJ; Busch, E L EL; Méndez-Giráldez, R R; Sotoodehnia, N N; Soliman, E Z EZ; Li, Y Y; Duan, Q Q; Rosendaal, F R FR; Slagboom, P E PE; Wilhelmsen, K C KC; Reiner, A P AP; Chen, Y-Di YD; Heckbert, S R SR; Kaplan, R C RC; Rice, K M KM; Jukema, J W JW; Johnson, A D AD; Liu, Y Y; Mook-Kanamori, D O DO; Gudnason, V V; Wilson, J G JG; Rotter, J I JI; Laurie, C C CC; Psaty, B M BM; Whitsel, E A EA; Cupples, L A LA; Stricker, B H BH
Publication Date: 2018-01

Variant appearance in text: rs9892651
PubMed Link: 27958378
Variant Present in the following documents:
  • Main text
  • nihms830044.pdf
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Shared genetic variants between serum levels of high-density lipoprotein cholesterol and wheezing in a cohort of children from Cyprus.

Italian Journal Of Pediatrics
Yiallouros, Panayiotis K PK; Kouis, Panayiotis P; Kolokotroni, Ourania O; Youhanna, Sonia S; Savva, Savvas C SC; Dima, Kleanthi K; Zerva, Aikaterini A; Platt, Danielle D; Middleton, Nicos N; Zalloua, Pierre P
Publication Date: 2016-07-13

Variant appearance in text: rs9892651
PubMed Link: 27411394
Variant Present in the following documents:
  • Main text
  • 13052_2016_Article_276.pdf
View BVdb publication page



Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

Nature Genetics
Arking, Dan E DE; Pulit, Sara L SL; Crotti, Lia L; van der Harst, Pim P; Munroe, Patricia B PB; Koopmann, Tamara T TT; Sotoodehnia, Nona N; Rossin, Elizabeth J EJ; Morley, Michael M; Wang, Xinchen X; Johnson, Andrew D AD; Lundby, Alicia A; Gudbjartsson, Daníel F DF; Noseworthy, Peter A PA; Eijgelsheim, Mark M; Bradford, Yuki Y; Tarasov, Kirill V KV; Dörr, Marcus M; Müller-Nurasyid, Martina M; Lahtinen, Annukka M AM; Nolte, Ilja M IM; Smith, Albert Vernon AV; Bis, Joshua C JC; Isaacs, Aaron A; Newhouse, Stephen J SJ; Evans, Daniel S DS; Post, Wendy S WS; Waggott, Daryl D; Lyytikäinen, Leo-Pekka LP; Hicks, Andrew A AA; Eisele, Lewin L; Ellinghaus, David D; Hayward, Caroline C; Navarro, Pau P; Ulivi, Sheila S; Tanaka, Toshiko T; Tester, David J DJ; Chatel, Stéphanie S; Gustafsson, Stefan S; Kumari, Meena M; Morris, Richard W RW; Naluai, Åsa T ÅT; Padmanabhan, Sandosh S; Kluttig, Alexander A; Strohmer, Bernhard B; Panayiotou, Andrie G AG; Torres, Maria M; Knoflach, Michael M; Hubacek, Jaroslav A JA; Slowikowski, Kamil K; Raychaudhuri, Soumya S; Kumar, Runjun D RD; Harris, Tamara B TB; Launer, Lenore J LJ; Shuldiner, Alan R AR; Alonso, Alvaro A; Bader, Joel S JS; Ehret, Georg G; Huang, Hailiang H; Kao, W H Linda WH; Strait, James B JB; Macfarlane, Peter W PW; Brown, Morris M; Caulfield, Mark J MJ; Samani, Nilesh J NJ; Kronenberg, Florian F; Willeit, Johann J; , ; , ; Smith, J Gustav JG; Greiser, Karin H KH; Meyer Zu Schwabedissen, Henriette H; Werdan, Karl K; Carella, Massimo M; Zelante, Leopoldo L; Heckbert, Susan R SR; Psaty, Bruce M BM; Rotter, Jerome I JI; Kolcic, Ivana I; Polašek, Ozren O; Wright, Alan F AF; Griffin, Maura M; Daly, Mark J MJ; , ; Arnar, David O DO; Hólm, Hilma H; Thorsteinsdottir, Unnur U; , ; Denny, Joshua C JC; Roden, Dan M DM; Zuvich, Rebecca L RL; Emilsson, Valur V; Plump, Andrew S AS; Larson, Martin G MG; O'Donnell, Christopher J CJ; Yin, Xiaoyan X; Bobbo, Marco M; D'Adamo, Adamo P AP; Iorio, Annamaria A; Sinagra, Gianfranco G; Carracedo, Angel A; Cummings, Steven R SR; Nalls, Michael A MA; Jula, Antti A; Kontula, Kimmo K KK; Marjamaa, Annukka A; Oikarinen, Lasse L; Perola, Markus M; Porthan, Kimmo K; Erbel, Raimund R; Hoffmann, Per P; Jöckel, Karl-Heinz KH; Kälsch, Hagen H; Nöthen, Markus M MM; , ; den Hoed, Marcel M; Loos, Ruth J F RJ; Thelle, Dag S DS; Gieger, Christian C; Meitinger, Thomas T; Perz, Siegfried S; Peters, Annette A; Prucha, Hanna H; Sinner, Moritz F MF; Waldenberger, Melanie M; de Boer, Rudolf A RA; Franke, Lude L; van der Vleuten, Pieter A PA; Beckmann, Britt Maria BM; Martens, Eimo E; Bardai, Abdennasser A; Hofman, Nynke N; Wilde, Arthur A M AA; Behr, Elijah R ER; Dalageorgou, Chrysoula C; Giudicessi, John R JR; Medeiros-Domingo, Argelia A; Barc, Julien J; Kyndt, Florence F; Probst, Vincent V; Ghidoni, Alice A; Insolia, Roberto R; Hamilton, Robert M RM; Scherer, Stephen W SW; Brandimarto, Jeffrey J; Margulies, Kenneth K; Moravec, Christine E CE; del Greco M, Fabiola F; Fuchsberger, Christian C; O'Connell, Jeffrey R JR; Lee, Wai K WK; Watt, Graham C M GC; Campbell, Harry H; Wild, Sarah H SH; El Mokhtari, Nour E NE; Frey, Norbert N; Asselbergs, Folkert W FW; Mateo Leach, Irene I; Navis, Gerjan G; van den Berg, Maarten P MP; van Veldhuisen, Dirk J DJ; Kellis, Manolis M; Krijthe, Bouwe P BP; Franco, Oscar H OH; Hofman, Albert A; Kors, Jan A JA; Uitterlinden, André G AG; Witteman, Jacqueline C M JC; Kedenko, Lyudmyla L; Lamina, Claudia C; Oostra, Ben A BA; Abecasis, Gonçalo R GR; Lakatta, Edward G EG; Mulas, Antonella A; Orrú, Marco M; Schlessinger, David D; Uda, Manuela M; Markus, Marcello R P MR; Völker, Uwe U; Snieder, Harold H; Spector, Timothy D TD; Ärnlöv, Johan J; Lind, Lars L; Sundström, Johan J; Syvänen, Ann-Christine AC; Kivimaki, Mika M; Kähönen, Mika M; Mononen, Nina N; Raitakari, Olli T OT; Viikari, Jorma S JS; Adamkova, Vera V; Kiechl, Stefan S; Brion, Maria M; Nicolaides, Andrew N AN; Paulweber, Bernhard B; Haerting, Johannes J; Dominiczak, Anna F AF; Nyberg, Fredrik F; Whincup, Peter H PH; Hingorani, Aroon D AD; Schott, Jean-Jacques JJ; Bezzina, Connie R CR; Ingelsson, Erik E; Ferrucci, Luigi L; Gasparini, Paolo P; Wilson, James F JF; Rudan, Igor I; Franke, Andre A; Mühleisen, Thomas W TW; Pramstaller, Peter P PP; Lehtimäki, Terho J TJ; Paterson, Andrew D AD; Parsa, Afshin A; Liu, Yongmei Y; van Duijn, Cornelia M CM; Siscovick, David S DS; Gudnason, Vilmundur V; Jamshidi, Yalda Y; Salomaa, Veikko V; Felix, Stephan B SB; Sanna, Serena S; Ritchie, Marylyn D MD; Stricker, Bruno H BH; Stefansson, Kari K; Boyer, Laurie A LA; Cappola, Thomas P TP; Olsen, Jesper V JV; Lage, Kasper K; Schwartz, Peter J PJ; Kääb, Stefan S; Chakravarti, Aravinda A; Ackerman, Michael J MJ; Pfeufer, Arne A; de Bakker, Paul I W PI; Newton-Cheh, Christopher C
Publication Date: 2014-08

Variant appearance in text: rs9892651
PubMed Link: 24952745
Variant Present in the following documents:
  • Main text
  • NIHMS600569-supplement-1.pdf
  • nihms600569.pdf
View BVdb publication page