TET2 c.4114A>C ;(p.T1372P)

Variant ID: 4-106190836-A-C

NM_001127208.2(TET2):c.4114A>C;(p.T1372P)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


A sex-informed approach to improve the personalised decision making process in myelodysplastic syndromes: a multicentre, observational cohort study.

The Lancet. Haematology
,
Publication Date: 2022-11-24

Variant appearance in text: TET2: 4114A>C; T1372P
PubMed Link: 36436542
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Pedigree investigation, clinical characteristics, and prognosis analysis of haematological disease patients with germline TET2 mutation.

Bmc Cancer
Wu, Xia X; Deng, Jili J; Zhang, Nanchen N; Liu, Xiaoyan X; Zheng, Xue X; Yan, Tianyou T; Ye, Wu W; Gong, Yuping Y
Publication Date: 2022-03-12

Variant appearance in text: TET2: 4114A>C; Thr1372Pro
PubMed Link: 35279121
Variant Present in the following documents:
  • 12885_2022_9347_MOESM5_ESM.xlsx, sheet 1
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: T1372P
PubMed Link: 31772163
Variant Present in the following documents:
  • 41467_2019_13001_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: TET2: 4114A>C; Thr1372Pro
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s5.xlsx, sheet 2
View BVdb publication page



Mutations along a TET2 active site scaffold stall oxidation at 5-hydroxymethylcytosine.

Nature Chemical Biology
Liu, Monica Yun MY; Torabifard, Hedieh H; Crawford, Daniel J DJ; DeNizio, Jamie E JE; Cao, Xing-Jun XJ; Garcia, Benjamin A BA; Cisneros, G Andrés GA; Kohli, Rahul M RM
Publication Date: 2017-02

Variant appearance in text: TET2: T1372P
PubMed Link: 27918559
Variant Present in the following documents:
  • Main text
View BVdb publication page