PFKFB2 c.*288A>G

Variant ID: 1-207246004-A-G

NM_006212.2(PFKFB2):c.*288A>G

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: rs6667268
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
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: rs6667268
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, 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: rs6667268
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



A cis-eQTL in PFKFB2 is associated with diabetic nephropathy, adiposity and insulin secretion in American Indians.

Human Molecular Genetics
Muller, Yunhua L YL; Piaggi, Paolo P; Hanson, Robert L RL; Kobes, Sayuko S; Bhutta, Shujera S; Abdussamad, Maryam M; Leak-Johnson, Tennille T; Kretzler, Matthias M; Huang, Ke K; Weil, E Jennifer EJ; Nelson, Robert G RG; Knowler, William C WC; Bogardus, Clifton C; Baier, Leslie J LJ
Publication Date: 2015-05-15

Variant appearance in text: rs6667268
PubMed Link: 25662186
Variant Present in the following documents:
  • Main text
View BVdb publication page