GATA2 c.-45-699G>T

Variant ID: 3-128206618-C-A

NM_032638.4(GATA2):c.-45-699G>T

This variant was identified in 7 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: rs1806462
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics
Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M
Publication Date: 2020-02-04

Variant appearance in text: rs1806462
PubMed Link: 32019565
Variant Present in the following documents:
  • 12920_2020_668_MOESM8_ESM.xls, sheet 1
  • 12920_2020_668_MOESM7_ESM.xls, sheet 1
View BVdb publication page



Transcriptional and metabolic rewiring of colorectal cancer cells expressing the oncogenic KRASG13D mutation.

British Journal Of Cancer
Charitou, Theodosia T; Srihari, Sriganesh S; Lynn, Miriam A MA; Jarboui, Mohamed-Ali MA; Fasterius, Erik E; Moldovan, Max M; Shirasawa, Senji S; Tsunoda, Toshiyuki T; Ueffing, Marius M; Xie, Jianling J; Xin, Jin J; Wang, Xuemin X; Proud, Christopher G CG; Boldt, Karsten K; Al-Khalili Szigyarto, Cristina C; Kolch, Walter W; Lynn, David J DJ
Publication Date: 2019-07

Variant appearance in text: rs1806462
PubMed Link: 31133691
Variant Present in the following documents:
  • 41416_2019_477_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: rs1806462
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s7.xlsx, sheet 3
View BVdb publication page



GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML.

Leukemia
Al Seraihi, Ahad F AF; Rio-Machin, Ana A; Tawana, Kiran K; Bödör, Csaba C; Wang, Jun J; Nagano, Ai A; Heward, James A JA; Iqbal, Sameena S; Best, Steven S; Lea, Nicholas N; McLornan, Donal D; Kozyra, Emilia J EJ; Wlodarski, Marcin W MW; Niemeyer, Charlotte M CM; Scott, Hamish H; Hahn, Chris C; Ellison, Alicia A; Tummala, Hemanth H; Cardoso, Shirleny Romualdo SR; Vulliamy, Tom T; Dokal, Inderjeet I; Butler, Tom T; Smith, Matthew M; Cavenagh, Jamie J; Fitzgibbon, Jude J
Publication Date: 2018-11

Variant appearance in text: rs1806462
PubMed Link: 29749400
Variant Present in the following documents:
  • Main text
  • 41375_2018_Article_134.pdf
  • 41375_2018_134_MOESM1_ESM.pdf
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: rs1806462
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



GATA2 is associated with familial early-onset coronary artery disease.

Plos Genetics
Connelly, Jessica J JJ; Wang, Tianyuan T; Cox, Julie E JE; Haynes, Carol C; Wang, Liyong L; Shah, Svati H SH; Crosslin, David R DR; Hale, A Brent AB; Nelson, Sarah S; Crossman, David C DC; Granger, Christopher B CB; Haines, Jonathan L JL; Jones, Christopher J H CJ; Vance, Jeffery M JM; Goldschmidt-Clermont, Pascal J PJ; Kraus, William E WE; Hauser, Elizabeth R ER; Gregory, Simon G SG
Publication Date: 2006-08-25

Variant appearance in text: rs1806462
PubMed Link: 16934006
Variant Present in the following documents:
  • Main text
  • pgen.0020139.pdf
View BVdb publication page