TET2 c.3748G>T ;(p.E1250*)

Variant ID: 4-106164880-G-T

NM_001127208.2(TET2):c.3748G>T;(p.E1250*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Insights from a rare myeloproliferative neoplasm with coexisting BCR-ABL1 fusion gene, CALR, and TET2 mutations treated with nilotinib and ruxolitinib.

Clinical Case Reports
Huo, Li L; Xie, Jundan J; Wang, Qian Q; Shen, Hongjie H; Ding, Zixuan Z; Wen, Lijun L; Zeng, Zhao Z; Xu, Yi Y; Ruan, Changgeng C; Chen, Suning S; Xue, Mengxing M
Publication Date: 2023-01

Variant appearance in text: TET2: 3748G>T
PubMed Link: 36703773
Variant Present in the following documents:
  • CCR3-11-e6801.pdf
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: E1250X
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 2
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: E1250X
PubMed Link: 34413458
Variant Present in the following documents:
  • 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive and common features of moderate aplastic anaemia.

British Journal Of Haematology
Patel, Bhumika J BJ; Barot, Shimoli V SV; Kuzmanovic, Teodora T; Kerr, Cassandra C; Przychodzen, Bartlomiej P BP; Thota, Swapna S; Lee, Sarah S; Patel, Saurabh S; Radivoyevitch, Tomas T; Lichtin, Alan A; Advani, Anjali A; Kalaycio, Matt M; Sekeres, Mikkael A MA; Carraway, Hetty E HE; Maciejewski, Jaroslaw P JP
Publication Date: 2020-06

Variant appearance in text: TET2: E1250X
PubMed Link: 32004386
Variant Present in the following documents:
  • NIHMS1719035-supplement-supporting_information_2.xlsx, sheet 7
View BVdb publication page



Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.

Nature Communications
Nagata, Yasunobu Y; Makishima, Hideki H; Kerr, Cassandra M CM; Przychodzen, Bartlomiej P BP; Aly, Mai M; Goyal, Abhinav A; Awada, Hassan H; Asad, Mohammad Fahad MF; Kuzmanovic, Teodora T; Suzuki, Hiromichi H; Yoshizato, Tetsuichi T; Yoshida, Kenichi K; Chiba, Kenichi K; Tanaka, Hiroko H; Shiraishi, Yuichi Y; Miyano, Satoru S; Mukherjee, Sudipto S; LaFramboise, Thomas T; Nazha, Aziz A; Sekeres, Mikkael A MA; Radivoyevitch, Tomas T; Haferlach, Torsten T; Ogawa, Seishi S; Maciejewski, Jaroslaw P JP
Publication Date: 2019-11-26

Variant appearance in text: TET2: E1250X
PubMed Link: 31772163
Variant Present in the following documents:
  • 41467_2019_13001_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Dynamic changes in the clonal structure of MDS and AML in response to epigenetic therapy.

Leukemia
Uy, G L GL; Duncavage, E J EJ; Chang, G S GS; Jacoby, M A MA; Miller, C A CA; Shao, J J; Heath, S S; Elliott, K K; Reineck, T T; Fulton, R S RS; Fronick, C C CC; O'Laughlin, M M; Ganel, L L; Abboud, C N CN; Cashen, A F AF; DiPersio, J F JF; Wilson, R K RK; Link, D C DC; Welch, J S JS; Ley, T J TJ; Graubert, T A TA; Westervelt, P P; Walter, M J MJ
Publication Date: 2017-04

Variant appearance in text: TET2: E1250*
PubMed Link: 27740633
Variant Present in the following documents:
  • NIHMS815232-supplement-6.xlsx, sheet 1
View BVdb publication page