BAK1 c.*888A>G

Variant ID: 6-33540692-T-C

NM_001188.3(BAK1):c.*888A>G

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.

Human Genetics
Longchamps, R J RJ; Yang, S Y SY; Castellani, C A CA; Shi, W W; Lane, J J; Grove, M L ML; Bartz, T M TM; Sarnowski, C C; Liu, C C; Burrows, K K; Guyatt, A L AL; Gaunt, T R TR; Kacprowski, T T; Yang, J J; De Jager, P L PL; Yu, L L; Bergman, A A; Xia, R R; Fornage, M M; Feitosa, M F MF; Wojczynski, M K MK; Kraja, A T AT; Province, M A MA; Amin, N N; Rivadeneira, F F; Tiemeier, H H; Uitterlinden, A G AG; Broer, L L; Van Meurs, J B J JBJ; Van Duijn, C M CM; Raffield, L M LM; Lange, L L; Rich, S S SS; Lemaitre, R N RN; Goodarzi, M O MO; Sitlani, C M CM; Mak, A C Y ACY; Bennett, D A DA; Rodriguez, S S; Murabito, J M JM; Lunetta, K L KL; Sotoodehnia, N N; Atzmon, G G; Ye, K K; Barzilai, N N; Brody, J A JA; Psaty, B M BM; Taylor, K D KD; Rotter, J I JI; Boerwinkle, E E; Pankratz, N N; Arking, D E DE
Publication Date: 2022-01

Variant appearance in text: rs210135
PubMed Link: 34859289
Variant Present in the following documents:
  • 439_2021_2394_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs210135
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs210135
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs210135
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.

Plos Genetics
Qayyum, Rehan R; Snively, Beverly M BM; Ziv, Elad E; Nalls, Michael A MA; Liu, Yongmei Y; Tang, Weihong W; Yanek, Lisa R LR; Lange, Leslie L; Evans, Michele K MK; Ganesh, Santhi S; Austin, Melissa A MA; Lettre, Guillaume G; Becker, Diane M DM; Zonderman, Alan B AB; Singleton, Andrew B AB; Harris, Tamara B TB; Mohler, Emile R ER; Logsdon, Benjamin A BA; Kooperberg, Charles C; Folsom, Aaron R AR; Wilson, James G JG; Becker, Lewis C LC; Reiner, Alexander P AP
Publication Date: 2012

Variant appearance in text: rs210135
PubMed Link: 22423221
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue.

Plos Genetics
Innocenti, Federico F; Cooper, Gregory M GM; Stanaway, Ian B IB; Gamazon, Eric R ER; Smith, Joshua D JD; Mirkov, Snezana S; Ramirez, Jacqueline J; Liu, Wanqing W; Lin, Yvonne S YS; Moloney, Cliona C; Aldred, Shelly Force SF; Trinklein, Nathan D ND; Schuetz, Erin E; Nickerson, Deborah A DA; Thummel, Ken E KE; Rieder, Mark J MJ; Rettie, Allan E AE; Ratain, Mark J MJ; Cox, Nancy J NJ; Brown, Christopher D CD
Publication Date: 2011-05

Variant appearance in text: rs210135
PubMed Link: 21637794
Variant Present in the following documents:
  • Main text
  • pgen.1002078.pdf
View BVdb publication page



Determinants of platelet count in humans.

Haematologica
Daly, Martina E ME
Publication Date: 2011-01

Variant appearance in text: rs210135
PubMed Link: 21193429
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetics of normal platelet reactivity.

Blood
Kunicki, Thomas J TJ; Nugent, Diane J DJ
Publication Date: 2010-10-14

Variant appearance in text: rs210135
PubMed Link: 20610812
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.

Nature Genetics
Soranzo, Nicole N; Spector, Tim D TD; Mangino, Massimo M; Kühnel, Brigitte B; Rendon, Augusto A; Teumer, Alexander A; Willenborg, Christina C; Wright, Benjamin B; Chen, Li L; Li, Mingyao M; Salo, Perttu P; Voight, Benjamin F BF; Burns, Philippa P; Laskowski, Roman A RA; Xue, Yali Y; Menzel, Stephan S; Altshuler, David D; Bradley, John R JR; Bumpstead, Suzannah S; Burnett, Mary-Susan MS; Devaney, Joseph J; Döring, Angela A; Elosua, Roberto R; Epstein, Stephen E SE; Erber, Wendy W; Falchi, Mario M; Garner, Stephen F SF; Ghori, Mohammed J R MJ; Goodall, Alison H AH; Gwilliam, Rhian R; Hakonarson, Hakon H HH; Hall, Alistair S AS; Hammond, Naomi N; Hengstenberg, Christian C; Illig, Thomas T; König, Inke R IR; Knouff, Christopher W CW; McPherson, Ruth R; Melander, Olle O; Mooser, Vincent V; Nauck, Matthias M; Nieminen, Markku S MS; O'Donnell, Christopher J CJ; Peltonen, Leena L; Potter, Simon C SC; Prokisch, Holger H; Rader, Daniel J DJ; Rice, Catherine M CM; Roberts, Robert R; Salomaa, Veikko V; Sambrook, Jennifer J; Schreiber, Stefan S; Schunkert, Heribert H; Schwartz, Stephen M SM; Serbanovic-Canic, Jovana J; Sinisalo, Juha J; Siscovick, David S DS; Stark, Klaus K; Surakka, Ida I; Stephens, Jonathan J; Thompson, John R JR; Völker, Uwe U; Völzke, Henry H; Watkins, Nicholas A NA; Wells, George A GA; Wichmann, H-Erich HE; Van Heel, David A DA; Tyler-Smith, Chris C; Thein, Swee Lay SL; Kathiresan, Sekar S; Perola, Markus M; Reilly, Muredach P MP; Stewart, Alexandre F R AF; Erdmann, Jeanette J; Samani, Nilesh J NJ; Meisinger, Christa C; Greinacher, Andreas A; Deloukas, Panos P; Ouwehand, Willem H WH; Gieger, Christian C
Publication Date: 2009-11

Variant appearance in text: rs210135
PubMed Link: 19820697
Variant Present in the following documents:
  • Main text
View BVdb publication page



Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.

Nucleic Acids Research
Milani, Lili L; Gupta, Manu M; Andersen, Malin M; Dhar, Sumeer S; Fryknäs, Mårten M; Isaksson, Anders A; Larsson, Rolf R; Syvänen, Ann-Christine AC
Publication Date: 2007

Variant appearance in text: rs210135
PubMed Link: 17267408
Variant Present in the following documents:
  • Main text
  • gkl1152.pdf
View BVdb publication page