TAOK1 c.-94-8875G>A

Variant ID: 17-27769598-G-A

NM_020791.2(TAOK1):c.-94-8875G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs9900280
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



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: rs9900280
PubMed Link: 34859289
Variant Present in the following documents:
  • 439_2021_2394_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



eMERGEing progress in genomics-the first seven years.

Frontiers In Genetics
Crawford, Dana C DC; Crosslin, David R DR; Tromp, Gerard G; Kullo, Iftikhar J IJ; Kuivaniemi, Helena H; Hayes, M Geoffrey MG; Denny, Joshua C JC; Bush, William S WS; Haines, Jonathan L JL; Roden, Dan M DM; McCarty, Catherine A CA; Jarvik, Gail P GP; Ritchie, Marylyn D MD
Publication Date: 2014

Variant appearance in text: rs9900280
PubMed Link: 24987407
Variant Present in the following documents:
  • Main text
  • fgene-05-00184.pdf
View BVdb publication page



A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.

Human Genetics
Shameer, Khader K; Denny, Joshua C JC; Ding, Keyue K; Jouni, Hayan H; Crosslin, David R DR; de Andrade, Mariza M; Chute, Christopher G CG; Peissig, Peggy P; Pacheco, Jennifer A JA; Li, Rongling R; Bastarache, Lisa L; Kho, Abel N AN; Ritchie, Marylyn D MD; Masys, Daniel R DR; Chisholm, Rex L RL; Larson, Eric B EB; McCarty, Catherine A CA; Roden, Dan M DM; Jarvik, Gail P GP; Kullo, Iftikhar J IJ
Publication Date: 2014-01

Variant appearance in text: rs9900280
PubMed Link: 24026423
Variant Present in the following documents:
  • Main text
View BVdb publication page