TET2 c.427G>A ;(p.D143N)

Variant ID: 4-106155526-G-A

NM_001127208.2(TET2):c.427G>A;(p.D143N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: Asp143Asn
PubMed Link: 35279121
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_9347.pdf
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: 427G>A; Asp143Asn; rs749618735
PubMed Link: 31187595
Variant Present in the following documents:
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: TET2: 427G>A; D143N
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page