TET2 c.1147C>T ;(p.Q383*)

Variant ID: 4-106156246-C-T

NM_001127208.2(TET2):c.1147C>T;(p.Q383*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Distinguishing STAT3/STAT5B Mutated Large Granular Lymphocyte Leukemia from Myeloid Neoplasms by Genetic Profiling.

Blood Advances
Kavesh, Mark M; Mohebnasab, Maedeh M; Angel, Marcela Riveros MR; Xie, Wei W; Raess, Philipp W PW; Cui, Wei W; Press, Richard D RD; Yang, Guang G; Li, Peng P
Publication Date: 2022-08-08

Variant appearance in text: TET2: 1147C>T; Q383*
PubMed Link: 35939786
Variant Present in the following documents:
  • BLOODA_ADV-2022-008192-mmc1.pdf
View BVdb publication page



Mutation profiles of diffuse large B-cell lymphoma transformation of splenic B-cell lymphoma/leukemia, unclassifiable on whole-exome sequencing.

Ejhaem
Kurosawa, Shuhei S; Toya, Takashi T; Sadato, Daichi D; Hishima, Tsunekazu T; Hirama, Chizuko C; Najima, Yuho Y; Kobayashi, Takeshi T; Haraguchi, Kyoko K; Okuyama, Yoshiki Y; Oboki, Keisuke K; Harada, Hironori H; Sakamaki, Hisashi H; Ohashi, Kazuteru K; Harada, Yuka Y; Doki, Noriko N
Publication Date: 2021-11

Variant appearance in text: TET2: 1147C>T
PubMed Link: 35845190
Variant Present in the following documents:
  • JHA2-2-854.pdf
View BVdb publication page



Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Publication Date: 2022-08

Variant appearance in text: TET2: Q383*
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



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: Q383X
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 2
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence of somatic mutations in patients with aplastic anemia using peripheral blood cfDNA as compared with BM.

Leukemia
Albitar, A A; Townsley, D D; Ma, W W; De Dios, I I; Funari, V V; Young, N S NS; Albitar, M M
Publication Date: 2018-01

Variant appearance in text: TET2: Gln383Ter
PubMed Link: 28832022
Variant Present in the following documents:
  • Main text
  • leu2017271a.pdf
View BVdb publication page