Variant ID: 17-19812541-T-C

NM_007202.3(AKAP10):c.1936A>G;(p.Ile646Val)

This variant was identified in 26 publications




Publications:


Centenarian Exomes as a Tool for Evaluating the Clinical Relevance of Germline Tumor Suppressor Mutations.

Technology In Cancer Research & Treatment
L Balabanski, D Serbezov, D Nikolova, O Antonova, D Nesheva, Z Hammoudeh, R Vazharova, S Karachanak-Yankova, R Staneva, M Mihaylova, V Damyanova, S Hadjidekova, D Toncheva
Publication Date: 2020

Variant appearance in text: rs203462
PubMed Link: 32233832
Variant Present in the following documents:
  • Main text
View BVdb publication page



Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports
HS AlSafar, M Al-Ali, GD Elbait, MH Al-Maini, D Ruta, B Peramo, A Henschel, GK Tay
Publication Date: 2019-10-11

Variant appearance in text: rs203462
PubMed Link: 31604968
Variant Present in the following documents:
  • 41598_2019_50876_MOESM1_ESM.xlsx
View BVdb publication page



Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss.

Proceedings Of The National Academy Of Sciences Of The United States Of America
C Li, G Bademci, A Subasioglu, O Diaz-Horta, Y Zhu, J Liu, TG Mitchell, C Abad, S Seyhan, D Duman, FB Cengiz, S Tokgoz-Yilmaz, SH Blanton, A Farooq, K Walz, RG Zhai, M Tekin
Publication Date: 2019-01-22

Variant appearance in text: rs203462
PubMed Link: 30610177
Variant Present in the following documents:
  • pnas.1810951116.sapp.pdf
View BVdb publication page



Functional Microdomains in Heart's Pacemaker: A Step Beyond Classical Electrophysiology and Remodeling.

Frontiers In Physiology
D Lang, AV Glukhov
Publication Date: 2018

Variant appearance in text: AKAP10: I646V
PubMed Link: 30538641
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single nucleotide polymorphisms alter kinase anchoring and the subcellular targeting of A-kinase anchoring proteins.

Proceedings Of The National Academy Of Sciences Of The United States Of America
FD Smith, MH Omar, PJ Nygren, J Soughayer, N Hoshi, HT Lau, CG Snyder, TC Branon, D Ghosh, LK Langeberg, AY Ting, LF Santana, SE Ong, MF Navedo, JD Scott
Publication Date: 2018-12-04

Variant appearance in text: D-AKAP2: I646V
PubMed Link: 30455320
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predisposition of functional genetic variants of A-kinase anchoring protein 10 toward acquired repolarization disorders in high-risk vascular surgery patients.

Therapeutics And Clinical Risk Management
J Biernawska, J Solek-Pastuszka, A Kazimierczak, K Safranow, M Kaczmarczyk, M Zegan-Baranska, M Zukowski, K Kotfis
Publication Date: 2018

Variant appearance in text: AKAP10: I646V; rs203462
PubMed Link: 30100729
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing of primary breast cancers with paired metastatic lesions reveals metastasis-enriched mutations in the A-kinase anchoring protein family (AKAPs).

Bmc Cancer
U Kjällquist, R Erlandsson, NP Tobin, A Alkodsi, I Ullah, G Stålhammar, E Karlsson, T Hatschek, J Hartman, S Linnarsson, J Bergh
Publication Date: 2018-02-12

Variant appearance in text: AKAP10: Ile646Val
PubMed Link: 29433456
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms/Mutations in A-Kinase Anchoring Proteins (AKAPs): Role in the Cardiovascular System.

Journal Of Cardiovascular Development And Disease
SV Suryavanshi, SM Jadhav, BK McConnell
Publication Date: 2018-01-25

Variant appearance in text: AKAP10: Ile646Val
PubMed Link: 29370121
Variant Present in the following documents:
  • Main text
View BVdb publication page



Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

Nature Genetics
V Turcot, Y Lu, HM Highland, C Schurmann, AE Justice, RS Fine, JP Bradfield, T Esko, A Giri, M Graff, X Guo, AE Hendricks, T Karaderi, A Lempradl, AE Locke, A Mahajan, E Marouli, S Sivapalaratnam, KL Young, T Alfred, MF Feitosa, NGD Masca, AK Manning, C Medina-Gomez, P Mudgal, MCY Ng, AP Reiner, S Vedantam, SM Willems, TW Winkler, G Abecasis, KK Aben, DS Alam, SE Alharthi, M Allison, P Amouyel, FW Asselbergs, PL Auer, B Balkau, LE Bang, I Barroso, L Bastarache, M Benn, S Bergmann, LF Bielak, M Blüher, M Boehnke, H Boeing, E Boerwinkle, CA Böger, J Bork-Jensen, ML Bots, EP Bottinger, DW Bowden, I Brandslund, G Breen, MH Brilliant, L Broer, M Brumat, AA Burt, AS Butterworth, PT Campbell, S Cappellani, DJ Carey, E Catamo, MJ Caulfield, JC Chambers, DI Chasman, YI Chen, R Chowdhury, C Christensen, AY Chu, M Cocca, FS Collins, JP Cook, J Corley, J Corominas Galbany, AJ Cox, DS Crosslin, G Cuellar-Partida, A D'Eustacchio, J Danesh, G Davies, PIW Bakker, MCH Groot, R Mutsert, IJ Deary, G Dedoussis, EW Demerath, M Heijer, AI Hollander, HM Ruijter, JG Dennis, JC Denny, E Di Angelantonio, F Drenos, M Du, MP Dubé, AM Dunning, DF Easton, TL Edwards, D Ellinghaus, PT Ellinor, P Elliott, E Evangelou, AE Farmaki, IS Farooqi, JD Faul, S Fauser, S Feng, E Ferrannini, J Ferrieres, JC Florez, I Ford, M Fornage, OH Franco, A Franke, PW Franks, N Friedrich, R Frikke-Schmidt, TE Galesloot, W Gan, I Gandin, P Gasparini, J Gibson, V Giedraitis, AP Gjesing, P Gordon-Larsen, M Gorski, HJ Grabe, SFA Grant, N Grarup, HL Griffiths, ML Grove, V Gudnason, S Gustafsson, J Haessler, H Hakonarson, AR Hammerschlag, T Hansen, KM Harris, TB Harris, AT Hattersley, CT Have, C Hayward, L He, NL Heard-Costa, AC Heath, IM Heid, Ø Helgeland, J Hernesniemi, AW Hewitt, OL Holmen, GK Hovingh, JMM Howson, Y Hu, PL Huang, JE Huffman, MA Ikram, E Ingelsson, AU Jackson, JH Jansson, GP Jarvik, GB Jensen, Y Jia, S Johansson, ME Jørgensen, T Jørgensen, JW Jukema, B Kahali, RS Kahn, M Kähönen, PR Kamstrup, S Kanoni, J Kaprio, M Karaleftheri, SLR Kardia, F Karpe, S Kathiresan, F Kee, LA Kiemeney, E Kim, H Kitajima, P Komulainen, JS Kooner, C Kooperberg, T Korhonen, P Kovacs, H Kuivaniemi, Z Kutalik, K Kuulasmaa, J Kuusisto, M Laakso, TA Lakka, D Lamparter, EM Lange, LA Lange, C Langenberg, EB Larson, NR Lee, T Lehtimäki, CE Lewis, H Li, J Li, R Li-Gao, H Lin, KH Lin, LA Lin, X Lin, L Lind, J Lindström, A Linneberg, CT Liu, DJ Liu, Y Liu, KS Lo, A Lophatananon, AJ Lotery, A Loukola, J Luan, SA Lubitz, LP Lyytikäinen, S Männistö, G Marenne, AL Mazul, MI McCarthy, R McKean-Cowdin, SE Medland, K Meidtner, L Milani, V Mistry, P Mitchell, KL Mohlke, L Moilanen, M Moitry, GW Montgomery, DO Mook-Kanamori, C Moore, TA Mori, AD Morris, AP Morris, M Müller-Nurasyid, PB Munroe, MA Nalls, N Narisu, CP Nelson, M Neville, SF Nielsen, K Nikus, PR Njølstad, BG Nordestgaard, DR Nyholt, JR O'Connel, ML O'Donoghue, LM Olde Loohuis, RA Ophoff, KR Owen, CJ Packard, S Padmanabhan, CNA Palmer, ND Palmer, G Pasterkamp, AP Patel, A Pattie, O Pedersen, PL Peissig, GM Peloso, CE Pennell, M Perola, JA Perry, JRB Perry, TH Pers, TN Person, A Peters, ERB Petersen, PA Peyser, A Pirie, O Polasek, TJ Polderman, H Puolijoki, OT Raitakari, A Rasheed, R Rauramaa, DF Reilly, F Renström, M Rheinberger, PM Ridker, JD Rioux, MA Rivas, DJ Roberts, NR Robertson, A Robino, O Rolandsson, I Rudan, KS Ruth, D Saleheen, V Salomaa, NJ Samani, Y Sapkota, N Sattar, RE Schoen, PJ Schreiner, MB Schulze, RA Scott, MP Segura-Lepe, SH Shah, WH Sheu, X Sim, AJ Slater, KS Small, AV Smith, L Southam, TD Spector, EK Speliotes, JM Starr, K Stefansson, V Steinthorsdottir, KE Stirrups, K Strauch, HM Stringham, M Stumvoll, L Sun, P Surendran, AJ Swift, H Tada, KE Tansey, JC Tardif, KD Taylor, A Teumer, DJ Thompson, G Thorleifsson, U Thorsteinsdottir, BH Thuesen, A Tönjes, G Tromp, S Trompet, E Tsafantakis, J Tuomilehto, A Tybjaerg-Hansen, JP Tyrer, R Uher, AG Uitterlinden, M Uusitupa, SW Laan, CM Duijn, N Leeuwen, J van Setten, M Vanhala, A Varbo, TV Varga, R Varma, DR Velez Edwards, SH Vermeulen, G Veronesi, H Vestergaard, V Vitart, TF Vogt, U Völker, D Vuckovic, LE Wagenknecht, M Walker, L Wallentin, F Wang, CA Wang, S Wang, Y Wang, EB Ware, NJ Wareham, HR Warren, DM Waterworth, J Wessel, HD White, CJ Willer, JG Wilson, DR Witte, AR Wood, Y Wu, H Yaghootkar, J Yao, P Yao, LM Yerges-Armstrong, R Young, E Zeggini, X Zhan, W Zhang, JH Zhao, W Zhao, W Zhao, W Zhou, KT Zondervan, , , , , , , , , , , , JI Rotter, JA Pospisilik, F Rivadeneira, IB Borecki, P Deloukas, TM Frayling, G Lettre, KE North, CM Lindgren, JN Hirschhorn, RJF Loos
Publication Date: 2018-01

Variant appearance in text: rs203462
PubMed Link: 29273807
Variant Present in the following documents:
  • NIHMS920811-supplement-2.xlsx
View BVdb publication page



Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals.

American Journal Of Human Genetics
JD Eicher, N Chami, T Kacprowski, A Nomura, MH Chen, LR Yanek, SM Tajuddin, UM Schick, AJ Slater, N Pankratz, L Polfus, C Schurmann, A Giri, JA Brody, LA Lange, A Manichaikul, WD Hill, R Pazoki, P Elliot, E Evangelou, I Tzoulaki, H Gao, AC Vergnaud, RA Mathias, DM Becker, LC Becker, A Burt, DR Crosslin, LP Lyytikäinen, K Nikus, J Hernesniemi, M Kähönen, E Raitoharju, N Mononen, OT Raitakari, T Lehtimäki, M Cushman, NA Zakai, DA Nickerson, LM Raffield, R Quarells, CJ Willer, GM Peloso, GR Abecasis, DJ Liu, , P Deloukas, NJ Samani, H Schunkert, J Erdmann, , , M Fornage, M Richard, JC Tardif, JD Rioux, MP Dube, S de Denus, Y Lu, EP Bottinger, RJ Loos, AV Smith, TB Harris, LJ Launer, V Gudnason, DR Velez Edwards, ES Torstenson, Y Liu, RP Tracy, JI Rotter, SS Rich, HM Highland, E Boerwinkle, J Li, E Lange, JG Wilson, E Mihailov, R Mägi, J Hirschhorn, A Metspalu, T Esko, C Vacchi-Suzzi, MA Nalls, AB Zonderman, MK Evans, G Engström, M Orho-Melander, O Melander, ML O'Donoghue, DM Waterworth, L Wallentin, HD White, JS Floyd, TM Bartz, KM Rice, BM Psaty, JM Starr, DC Liewald, C Hayward, IJ Deary, A Greinacher, U Völker, T Thiele, H Völzke, FJ van Rooij, AG Uitterlinden, OH Franco, A Dehghan, TL Edwards, SK Ganesh, S Kathiresan, N Faraday, PL Auer, AP Reiner, G Lettre, AD Johnson
Publication Date: 2016-07-07

Variant appearance in text: rs203462
PubMed Link: 27346686
Variant Present in the following documents:
  • mmc2.xlsx
View BVdb publication page



Anchoring of both PKA-RIIα and 14-3-3θ regulates retinoic acid induced 16 mediated phosphorylation of heat shock protein 70.

Oncotarget
CL Ding, G Xu, HL Tang, SY Zhu, LJ Zhao, H Ren, P Zhao, ZT Qi, W Wang
Publication Date: 2015-06-20

Variant appearance in text: AKAP10: I646V
PubMed Link: 25900241
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of functional genetic variants of A-kinase anchoring protein 10 with QT interval length in full-term Polish newborns.

Archives Of Medical Science : Ams
B Łoniewska, M Kaczmarczyk, JS Clark, I Gorący, A Horodnicka-Józwa, A Ciechanowicz
Publication Date: 2015-03-16

Variant appearance in text: AKAP10: I646V
PubMed Link: 25861302
Variant Present in the following documents:
  • Main text
View BVdb publication page



Synthesis of 53 tissue and cell line expression QTL datasets reveals master eQTLs.

Bmc Genomics
X Zhang, HJ Gierman, D Levy, A Plump, R Dobrin, HH Goring, JE Curran, MP Johnson, J Blangero, SK Kim, CJ O'Donnell, V Emilsson, AD Johnson
Publication Date: 2014-06-27

Variant appearance in text: rs203462
PubMed Link: 24973796
Variant Present in the following documents:
  • 12864_2013_6258_MOESM6_ESM.xlsx
  • aaaaaMain text
View BVdb publication page



Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.

Nature Genetics
PL Auer, A Teumer, U Schick, A O'Shaughnessy, KS Lo, N Chami, C Carlson, S de Denus, MP Dubé, J Haessler, RD Jackson, C Kooperberg, LP Perreault, M Nauck, U Peters, JD Rioux, F Schmidt, V Turcot, U Völker, H Völzke, A Greinacher, L Hsu, JC Tardif, GA Diaz, AP Reiner, G Lettre
Publication Date: 2014-06

Variant appearance in text: rs203462
PubMed Link: 24777453
Variant Present in the following documents:
  • NIHMS581495-supplement-1.pdf
View BVdb publication page



Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

Peerj
JA O'Rawe, H Fang, S Rynearson, R Robison, ES Kiruluta, G Higgins, K Eilbeck, MG Reese, GJ Lyon
Publication Date: 2013

Variant appearance in text: rs203462
PubMed Link: 24109560
Variant Present in the following documents:
  • peerj-01-177-s010.xlsx
View BVdb publication page



Sequencing and analysis of a South Asian-Indian personal genome.

Bmc Genomics
R Gupta, A Ratan, C Rajesh, R Chen, HL Kim, R Burhans, W Miller, S Santhosh, RV Davuluri, AJ Butte, SC Schuster, S Seshagiri, G Thomas
Publication Date: 2012-08-31

Variant appearance in text: AKAP10: I646V
PubMed Link: 22938532
Variant Present in the following documents:
  • Main text
View BVdb publication page



Anchoring proteins as regulators of signaling pathways.

Circulation Research
A Perino, A Ghigo, JD Scott, E Hirsch
Publication Date: 2012-08-03

Variant appearance in text: D-AKAP2: I646V
PubMed Link: 22859670
Variant Present in the following documents:
  • Main text
View BVdb publication page



A-kinase anchoring proteins as potential drug targets.

British Journal Of Pharmacology
J Tröger, MC Moutty, P Skroblin, E Klussmann
Publication Date: 2012-05

Variant appearance in text: D-AKAP2: I646V
PubMed Link: 22122509
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomics of ADME gene expression: mapping expression quantitative trait loci relevant for absorption, distribution, metabolism and excretion of drugs in human liver.

The Pharmacogenomics Journal
A Schröder, K Klein, S Winter, M Schwab, M Bonin, A Zell, UM Zanger
Publication Date: 2013-02

Variant appearance in text: rs203462
PubMed Link: 22006096
Variant Present in the following documents:
  • tpj201144x3.xls
View BVdb publication page



Disruption of protein kinase A localization using a trans-activator of transcription (TAT)-conjugated A-kinase-anchoring peptide reduces cardiac function.

The Journal Of Biological Chemistry
HH Patel, LL Hamuro, BJ Chun, Y Kawaraguchi, A Quick, B Rebolledo, J Pennypacker, J Thurston, N Rodriguez-Pinto, C Self, G Olson, PA Insel, WR Giles, SS Taylor, DM Roth
Publication Date: 2010-09-03

Variant appearance in text: AKAP10: I646V
PubMed Link: 20581396
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

The New England Journal Of Medicine
JR Lupski, JG Reid, C Gonzaga-Jauregui, D Rio Deiros, DC Chen, L Nazareth, M Bainbridge, H Dinh, C Jing, DA Wheeler, AL McGuire, F Zhang, P Stankiewicz, JJ Halperin, C Yang, C Gehman, D Guo, RK Irikat, W Tom, NJ Fantin, DM Muzny, RA Gibbs
Publication Date: 2010-04-01

Variant appearance in text: rs203462
PubMed Link: 20220177
Variant Present in the following documents:
  • NIHMS196608-supplement-supp_app.pdf
View BVdb publication page



D-AKAP2 interacts with Rab4 and Rab11 through its RGS domains and regulates transferrin receptor recycling.

The Journal Of Biological Chemistry
CT Eggers, JC Schafer, JR Goldenring, SS Taylor
Publication Date: 2009-11-20

Variant appearance in text: D-AKAP2: I646V
PubMed Link: 19797056
Variant Present in the following documents:
  • Main text
View BVdb publication page



Modifier effects between regulatory and protein-coding variation.

Plos Genetics
AS Dimas, BE Stranger, C Beazley, RD Finn, CE Ingle, MS Forrest, ME Ritchie, P Deloukas, S Tavaré, ET Dermitzakis
Publication Date: 2008-10

Variant appearance in text: rs203462
PubMed Link: 18974877
Variant Present in the following documents:
  • pgen.1000244.s003.pdf
View BVdb publication page



Cataloging coding sequence variations in human genome databases.

Plos One
HH Won, HJ Kim, KA Lee, JW Kim
Publication Date: 2008

Variant appearance in text: rs203462
PubMed Link: 18974781
Variant Present in the following documents:
  • pone.0003575.s003.xls
  • pone.0003575.s007.xls
View BVdb publication page



Genetic association analyses of non-synonymous single nucleotide polymorphisms in diabetic nephropathy.

Diabetologia
DA Savage, CC Patterson, P Deloukas, P Whittaker, AJ McKnight, J Morrison, AJ Boulton, AG Demaine, SM Marshall, BA Millward, SM Thomas, GC Viberti, JD Walker, D Sadlier, AP Maxwell, SC Bain
Publication Date: 2008-11

Variant appearance in text: rs203462
PubMed Link: 18773191
Variant Present in the following documents:
  • NIHMS4502-supplement-S1.pdf
View BVdb publication page



Gene-trapped mouse embryonic stem cell-derived cardiac myocytes and human genetics implicate AKAP10 in heart rhythm regulation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
WG Tingley, L Pawlikowska, JG Zaroff, T Kim, T Nguyen, SG Young, K Vranizan, PY Kwok, MA Whooley, BR Conklin
Publication Date: 2007-05-15

Variant appearance in text: AKAP10: I646V; rs203462
PubMed Link: 17485678
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000225737.6 c.1936A>G p.Ile646Val missense_variant 14/15 -
ENST00000395536.3 c.1762A>G p.Ile588Val missense_variant 13/14 -
ENST00000578898.1 c.*269A>G - 3_prime_UTR_variant,NMD_transcript_variant 5/6 -
NM_001330152.1 c.1762A>G p.Ile588Val missense_variant 13/14 -
NM_007202.4 c.1936A>G p.Ile646Val missense_variant 14/15 -