TET2 c.307C>G ;(p.L103V)

Variant ID: 4-106155406-C-G

NM_001127208.2(TET2):c.307C>G;(p.L103V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The longitudinal dynamics and natural history of clonal haematopoiesis.

Nature
Fabre, Margarete A MA; de Almeida, José Guilherme JG; Fiorillo, Edoardo E; Mitchell, Emily E; Damaskou, Aristi A; Rak, Justyna J; Orrù, Valeria V; Marongiu, Michele M; Chapman, Michael Spencer MS; Vijayabaskar, M S MS; Baxter, Joanna J; Hardy, Claire C; Abascal, Federico F; Williams, Nicholas N; Nangalia, Jyoti J; Martincorena, Iñigo I; Campbell, Peter J PJ; McKinney, Eoin F EF; Cucca, Francesco F; Gerstung, Moritz M; Vassiliou, George S GS
Publication Date: 2022-06

Variant appearance in text: TET2: L103V
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer
Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L
Publication Date: 2019-02-01

Variant appearance in text: TET2: 307C>G; L103V
PubMed Link: 30709382
Variant Present in the following documents:
  • 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



TET2 stabilization by 14-3-3 binding to the phosphorylated Serine 99 is deregulated by mutations in cancer.

Cell Research
Chen, Hao H; Yu, Dingdang D; Fang, Rui R; Rabidou, Kimberlie K; Wu, Di D; Hu, Di D; Jia, Peilin P; Zhao, Zhongming Z; Wu, Zhiping Z; Peng, Junmin J; Shi, Yang Y; Shi, Yujiang Geno YG
Publication Date: 2019-03

Variant appearance in text: TET2: L103V
PubMed Link: 30607016
Variant Present in the following documents:
  • Main text
View BVdb publication page