TET2 c.3820C>G ;(p.Q1274E)

Variant ID: 4-106180792-C-G

NM_001127208.2(TET2):c.3820C>G;(p.Q1274E)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Stem cell architecture drives myelodysplastic syndrome progression and predicts response to venetoclax-based therapy.

Nature Medicine
Ganan-Gomez, Irene I; Yang, Hui H; Ma, Feiyang F; Montalban-Bravo, Guillermo G; Thongon, Natthakan N; Marchica, Valentina V; Richard-Carpentier, Guillaume G; Chien, Kelly K; Manyam, Ganiraju G; Wang, Feng F; Alfonso, Ana A; Chen, Shuaitong S; Class, Caleb C; Kanagal-Shamanna, Rashmi R; Ingram, Justin P JP; Ogoti, Yamini Y; Rose, Ashley A; Loghavi, Sanam S; Lockyer, Pamela P; Cambo, Benedetta B; Muftuoglu, Muharrem M; Schneider, Sarah S; Adema, Vera V; McLellan, Michael M; Garza, John J; Marchesini, Matteo M; Giuliani, Nicola N; Pellegrini, Matteo M; Wang, Jing J; Walker, Jason J; Li, Ziyi Z; Takahashi, Koichi K; Leverson, Joel D JD; Bueso-Ramos, Carlos C; Andreeff, Michael M; Clise-Dwyer, Karen K; Garcia-Manero, Guillermo G; Colla, Simona S
Publication Date: 2022-03

Variant appearance in text: TET2: Q1274E
PubMed Link: 35241842
Variant Present in the following documents:
  • 41591_2022_1696_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Enhancer recruitment of transcription repressors RUNX1 and TLE3 by mis-expressed FOXC1 blocks differentiation in acute myeloid leukemia.

Cell Reports
Simeoni, Fabrizio F; Romero-Camarero, Isabel I; Camera, Francesco F; Amaral, Fabio M R FMR; Sinclair, Oliver J OJ; Papachristou, Evangelia K EK; Spencer, Gary J GJ; Lie-A-Ling, Michael M; Lacaud, Georges G; Wiseman, Daniel H DH; Carroll, Jason S JS; Somervaille, Tim C P TCP
Publication Date: 2021-09-21

Variant appearance in text: TET2: Q1274E
PubMed Link: 34551306
Variant Present in the following documents:
  • mmc1.pdf
  • mmc5.pdf
View BVdb publication page



Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease.

Leukemia
Dawoud, Ahmed A Z AAZ; Gilbert, Rodney D RD; Tapper, William J WJ; Cross, Nicholas C P NCP
Publication Date: 2022-02

Variant appearance in text: TET2: Q1274E
PubMed Link: 34413458
Variant Present in the following documents:
  • 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



TET2 missense variants in human neoplasia. A proposal of structural and functional classification.

Molecular Genetics & Genomic Medicine
Bussaglia, Elena E; Antón, Rosa R; Nomdedéu, Josep F JF; Fuentes-Prior, Pablo P
Publication Date: 2019-07

Variant appearance in text: TET2: 3820C>G; Gln1274Glu
PubMed Link: 31187595
Variant Present in the following documents:
View BVdb publication page