PRKCA c.205+16112G>C

Variant ID: 17-64318357-G-C

NM_002737.2(PRKCA):c.205+16112G>C

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure.

Nature Communications
Levin, Michael G MG; Tsao, Noah L NL; Singhal, Pankhuri P; Liu, Chang C; Vy, Ha My T HMT; Paranjpe, Ishan I; Backman, Joshua D JD; Bellomo, Tiffany R TR; Bone, William P WP; Biddinger, Kiran J KJ; Hui, Qin Q; Dikilitas, Ozan O; Satterfield, Benjamin A BA; Yang, Yifan Y; Morley, Michael P MP; Bradford, Yuki Y; Burke, Megan M; Reza, Nosheen N; Charest, Brian B; , ; Judy, Renae L RL; Puckelwartz, Megan J MJ; Hakonarson, Hakon H; Khan, Atlas A; Kottyan, Leah C LC; Kullo, Iftikhar I; Luo, Yuan Y; McNally, Elizabeth M EM; Rasmussen-Torvik, Laura J LJ; Day, Sharlene M SM; Do, Ron R; Phillips, Lawrence S LS; Ellinor, Patrick T PT; Nadkarni, Girish N GN; Ritchie, Marylyn D MD; Arany, Zoltan Z; Cappola, Thomas P TP; Margulies, Kenneth B KB; Aragam, Krishna G KG; Haggerty, Christopher M CM; Joseph, Jacob J; Sun, Yan V YV; Voight, Benjamin F BF; Damrauer, Scott M SM
Publication Date: 2022-11-14

Variant appearance in text: rs9912468
PubMed Link: 36376295
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_34216.pdf
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Validation and Disease Risk Assessment of Previously Reported Genome-Wide Genetic Variants Associated With Brugada Syndrome: SADS-TW BrS Registry.

Circulation. Genomic And Precision Medicine
Jimmy Juang, Jyh-Ming JM; Liu, Yen-Bin YB; Julius Chen, Ching-Yu CY; Yu, Qi-You QY; Chattopadhyay, Amrita A; Lin, Lian-Yu LY; Chen, Wen-Jone WJ; Yu, Chih-Chien CC; Huang, Hui-Chun HC; Ho, Li-Ting LT; Lai, Ling-Ping LP; Hwang, Juey-Jen JJ; Lin, Ting-Tse TT; Liao, Min-Tsun MT; Chen, Jien-Jiun JJ; Sherri Yeh, Shih-Fan SF; Chuang, Jing-Yuan JY; Yang, Dun-Hui DH; Lin, Jiunn-Lee JL; Lu, Tzu-Pin TP; Chuang, Eric Y EY; Ackerman, Michael J MJ
Publication Date: 2020-08

Variant appearance in text: rs9912468
PubMed Link: 32490690
Variant Present in the following documents:
  • hcg-13-e002797-s001.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: rs9912468
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
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Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.

Genome Biology
Prins, Bram P BP; Mead, Timothy J TJ; Brody, Jennifer A JA; Sveinbjornsson, Gardar G; Ntalla, Ioanna I; Bihlmeyer, Nathan A NA; van den Berg, Marten M; Bork-Jensen, Jette J; Cappellani, Stefania S; Van Duijvenboden, Stefan S; Klena, Nikolai T NT; Gabriel, George C GC; Liu, Xiaoqin X; Gulec, Cagri C; Grarup, Niels N; Haessler, Jeffrey J; Hall, Leanne M LM; Iorio, Annamaria A; Isaacs, Aaron A; Li-Gao, Ruifang R; Lin, Honghuang H; Liu, Ching-Ti CT; Lyytikäinen, Leo-Pekka LP; Marten, Jonathan J; Mei, Hao H; Müller-Nurasyid, Martina M; Orini, Michele M; Padmanabhan, Sandosh S; Radmanesh, Farid F; Ramirez, Julia J; Robino, Antonietta A; Schwartz, Molly M; van Setten, Jessica J; Smith, Albert V AV; Verweij, Niek N; Warren, Helen R HR; Weiss, Stefan S; Alonso, Alvaro A; Arnar, David O DO; Bots, Michiel L ML; de Boer, Rudolf A RA; Dominiczak, Anna F AF; Eijgelsheim, Mark M; Ellinor, Patrick T PT; Guo, Xiuqing X; Felix, Stephan B SB; Harris, Tamara B TB; Hayward, Caroline C; Heckbert, Susan R SR; Huang, Paul L PL; Jukema, J W JW; Kähönen, Mika M; Kors, Jan A JA; Lambiase, Pier D PD; Launer, Lenore J LJ; Li, Man M; Linneberg, Allan A; Nelson, Christopher P CP; Pedersen, Oluf O; Perez, Marco M; Peters, Annette A; Polasek, Ozren O; Psaty, Bruce M BM; Raitakari, Olli T OT; Rice, Kenneth M KM; Rotter, Jerome I JI; Sinner, Moritz F MF; Soliman, Elsayed Z EZ; Spector, Tim D TD; Strauch, Konstantin K; Thorsteinsdottir, Unnur U; Tinker, Andrew A; Trompet, Stella S; Uitterlinden, André A; Vaartjes, Ilonca I; van der Meer, Peter P; Völker, Uwe U; Völzke, Henry H; Waldenberger, Melanie M; Wilson, James G JG; Xie, Zhijun Z; Asselbergs, Folkert W FW; Dörr, Marcus M; van Duijn, Cornelia M CM; Gasparini, Paolo P; Gudbjartsson, Daniel F DF; Gudnason, Vilmundur V; Hansen, Torben T; Kääb, Stefan S; Kanters, Jørgen K JK; Kooperberg, Charles C; Lehtimäki, Terho T; Lin, Henry J HJ; Lubitz, Steven A SA; Mook-Kanamori, Dennis O DO; Conti, Francesco J FJ; Newton-Cheh, Christopher H CH; Rosand, Jonathan J; Rudan, Igor I; Samani, Nilesh J NJ; Sinagra, Gianfranco G; Smith, Blair H BH; Holm, Hilma H; Stricker, Bruno H BH; Ulivi, Sheila S; Sotoodehnia, Nona N; Apte, Suneel S SS; van der Harst, Pim P; Stefansson, Kari K; Munroe, Patricia B PB; Arking, Dan E DE; Lo, Cecilia W CW; Jamshidi, Yalda Y
Publication Date: 2018-07-17

Variant appearance in text: rs9912468
PubMed Link: 30012220
Variant Present in the following documents:
  • Main text
  • 13059_2018_Article_1457.pdf
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ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals.

Circulation. Genomic And Precision Medicine
Bihlmeyer, Nathan A NA; Brody, Jennifer A JA; Smith, Albert Vernon AV; Warren, Helen R HR; Lin, Honghuang H; Isaacs, Aaron A; Liu, Ching-Ti CT; Marten, Jonathan J; Radmanesh, Farid F; Hall, Leanne M LM; Grarup, Niels N; Mei, Hao H; Müller-Nurasyid, Martina M; Huffman, Jennifer E JE; Verweij, Niek N; Guo, Xiuqing X; Yao, Jie J; Li-Gao, Ruifang R; van den Berg, Marten M; Weiss, Stefan S; Prins, Bram P BP; van Setten, Jessica J; Haessler, Jeffrey J; Lyytikäinen, Leo-Pekka LP; Li, Man M; Alonso, Alvaro A; Soliman, Elsayed Z EZ; Bis, Joshua C JC; Austin, Tom T; Chen, Yii-Der Ida YI; Psaty, Bruce M BM; Harrris, Tamara B TB; Launer, Lenore J LJ; Padmanabhan, Sandosh S; Dominiczak, Anna A; Huang, Paul L PL; Xie, Zhijun Z; Ellinor, Patrick T PT; Kors, Jan A JA; Campbell, Archie A; Murray, Alison D AD; Nelson, Christopher P CP; Tobin, Martin D MD; Bork-Jensen, Jette J; Hansen, Torben T; Pedersen, Oluf O; Linneberg, Allan A; Sinner, Moritz F MF; Peters, Annette A; Waldenberger, Melanie M; Meitinger, Thomas T; Perz, Siegfried S; Kolcic, Ivana I; Rudan, Igor I; de Boer, Rudolf A RA; van der Meer, Peter P; Lin, Henry J HJ; Taylor, Kent D KD; de Mutsert, Renée R; Trompet, Stella S; Jukema, J Wouter JW; Maan, Arie C AC; Stricker, Bruno H C BHC; Rivadeneira, Fernando F; Uitterlinden, André A; Völker, Uwe U; Homuth, Georg G; Völzke, Henry H; Felix, Stephan B SB; Mangino, Massimo M; Spector, Timothy D TD; Bots, Michiel L ML; Perez, Marco M; Raitakari, Olli T OT; Kähönen, Mika M; Mononen, Nina N; Gudnason, Vilmundur V; Munroe, Patricia B PB; Lubitz, Steven A SA; van Duijn, Cornelia M CM; Newton-Cheh, Christopher H CH; Hayward, Caroline C; Rosand, Jonathan J; Samani, Nilesh J NJ; Kanters, Jørgen K JK; Wilson, James G JG; Kääb, Stefan S; Polasek, Ozren O; van der Harst, Pim P; Heckbert, Susan R SR; Rotter, Jerome I JI; Mook-Kanamori, Dennis O DO; Eijgelsheim, Mark M; Dörr, Marcus M; Jamshidi, Yalda Y; Asselbergs, Folkert W FW; Kooperberg, Charles C; Lehtimäki, Terho T; Arking, Dan E DE; Sotoodehnia, Nona N
Publication Date: 2018-01

Variant appearance in text: rs9912468
PubMed Link: 29874175
Variant Present in the following documents:
  • Main text
  • hcg-11-e001758.pdf
  • hcg-11-e001758-s001.pdf
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Genetic Reduction in Left Ventricular Protein Kinase C-α and Adverse Ventricular Remodeling in Human Subjects.

Circulation. Genomic And Precision Medicine
Hu, Ray R; Morley, Michael P MP; Brandimarto, Jeffrey J; Tucker, Nathan R NR; Parsons, Victoria A VA; Zhao, Sihai D SD; Meder, Benjamin B; Katus, Hugo A HA; Rühle, Frank F; Stoll, Monika M; Villard, Eric E; Cambien, François F; Lin, Honghuang H; Smith, Nicholas L NL; Felix, Janine F JF; Vasan, Ramachandran S RS; van der Harst, Pim P; Newton-Cheh, Christopher C; Li, Jin J; Kim, Cecilia E CE; Hakonarson, Hakon H; Hannenhalli, Sridhar S; Ashley, Euan A EA; Moravec, Christine S CS; Tang, W H Wilson WHW; Maillet, Marjorie M; Molkentin, Jeffery D JD; Ellinor, Patrick T PT; Margulies, Kenneth B KB; Cappola, Thomas P TP
Publication Date: 2018-03

Variant appearance in text: rs9912468
PubMed Link: 29540468
Variant Present in the following documents:
  • Main text
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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: rs9912468
PubMed Link: 28120175
Variant Present in the following documents:
  • Main text
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Genome-wide identification of expression quantitative trait loci (eQTLs) in human heart.

Plos One
Koopmann, Tamara T TT; Adriaens, Michiel E ME; Moerland, Perry D PD; Marsman, Roos F RF; Westerveld, Margriet L ML; Lal, Sean S; Zhang, Taifang T; Simmons, Christine Q CQ; Baczko, Istvan I; dos Remedios, Cristobal C; Bishopric, Nanette H NH; Varro, Andras A; George, Alfred L AL; Lodder, Elisabeth M EM; Bezzina, Connie R CR
Publication Date: 2014

Variant appearance in text: rs9912468
PubMed Link: 24846176
Variant Present in the following documents:
  • Main text
  • pone.0097380.pdf
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Current genomics in cardiovascular medicine.

Current Genomics
Sawhney, Vinit V; Brouilette, Scott S; Abrams, Dominic D; Schilling, Richard R; O'Brien, Benjamin B
Publication Date: 2012-09

Variant appearance in text: rs9912468
PubMed Link: 23450299
Variant Present in the following documents:
  • Main text
  • CG-6-446.pdf
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SNPs identified as modulators of ECG traits in the general population do not markedly affect ECG traits during acute myocardial infarction nor ventricular fibrillation risk in this condition.

Plos One
Pazoki, Raha R; de Jong, Jonas S S G JS; Marsman, Roos F RF; Bruinsma, Nienke N; Dekker, Lukas R C LR; Wilde, Arthur A M AA; Bezzina, Connie R CR; Tanck, Michael W T MW
Publication Date: 2013

Variant appearance in text: rs9912468
PubMed Link: 23437344
Variant Present in the following documents:
  • Main text
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Epidemiology and genetics of sudden cardiac death.

Circulation
Deo, Rajat R; Albert, Christine M CM
Publication Date: 2012-01-31

Variant appearance in text: rs9912468
PubMed Link: 22294707
Variant Present in the following documents:
  • Main text
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Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.

Nature Genetics
Sotoodehnia, Nona N; Isaacs, Aaron A; de Bakker, Paul I W PI; Dörr, Marcus M; Newton-Cheh, Christopher C; Nolte, Ilja M IM; van der Harst, Pim P; Müller, Martina M; Eijgelsheim, Mark M; Alonso, Alvaro A; Hicks, Andrew A AA; Padmanabhan, Sandosh S; Hayward, Caroline C; Smith, Albert Vernon AV; Polasek, Ozren O; Giovannone, Steven S; Fu, Jingyuan J; Magnani, Jared W JW; Marciante, Kristin D KD; Pfeufer, Arne A; Gharib, Sina A SA; Teumer, Alexander A; Li, Man M; Bis, Joshua C JC; Rivadeneira, Fernando F; Aspelund, Thor T; Köttgen, Anna A; Johnson, Toby T; Rice, Kenneth K; Sie, Mark P S MP; Wang, Ying A YA; Klopp, Norman N; Fuchsberger, Christian C; Wild, Sarah H SH; Mateo Leach, Irene I; Estrada, Karol K; Völker, Uwe U; Wright, Alan F AF; Asselbergs, Folkert W FW; Qu, Jiaxiang J; Chakravarti, Aravinda A; Sinner, Moritz F MF; Kors, Jan A JA; Petersmann, Astrid A; Harris, Tamara B TB; Soliman, Elsayed Z EZ; Munroe, Patricia B PB; Psaty, Bruce M BM; Oostra, Ben A BA; Cupples, L Adrienne LA; Perz, Siegfried S; de Boer, Rudolf A RA; Uitterlinden, André G AG; Völzke, Henry H; Spector, Timothy D TD; Liu, Fang-Yu FY; Boerwinkle, Eric E; Dominiczak, Anna F AF; Rotter, Jerome I JI; van Herpen, Gé G; Levy, Daniel D; Wichmann, H-Erich HE; van Gilst, Wiek H WH; Witteman, Jacqueline C M JC; Kroemer, Heyo K HK; Kao, W H Linda WH; Heckbert, Susan R SR; Meitinger, Thomas T; Hofman, Albert A; Campbell, Harry H; Folsom, Aaron R AR; van Veldhuisen, Dirk J DJ; Schwienbacher, Christine C; O'Donnell, Christopher J CJ; Volpato, Claudia Beu CB; Caulfield, Mark J MJ; Connell, John M JM; Launer, Lenore L; Lu, Xiaowen X; Franke, Lude L; Fehrmann, Rudolf S N RS; te Meerman, Gerard G; Groen, Harry J M HJ; Weersma, Rinse K RK; van den Berg, Leonard H LH; Wijmenga, Cisca C; Ophoff, Roel A RA; Navis, Gerjan G; Rudan, Igor I; Snieder, Harold H; Wilson, James F JF; Pramstaller, Peter P PP; Siscovick, David S DS; Wang, Thomas J TJ; Gudnason, Vilmundur V; van Duijn, Cornelia M CM; Felix, Stephan B SB; Fishman, Glenn I GI; Jamshidi, Yalda Y; Stricker, Bruno H Ch BH; Samani, Nilesh J NJ; Kääb, Stefan S; Arking, Dan E DE
Publication Date: 2010-12

Variant appearance in text: rs9912468
PubMed Link: 21076409
Variant Present in the following documents:
  • Main text
  • NIHMS247823-supplement-1.pdf
  • nihms247823.pdf
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