TET2 c.920T>G ;(p.L307R)

Variant ID: 4-106156019-T-G

NM_001127208.2(TET2):c.920T>G;(p.L307R)

This variant was identified in 7 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: 920T>G; L307R; rs145125867
PubMed Link: 35279121
Variant Present in the following documents:
  • 12885_2022_9347_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Expression and prognosis analysis of TET family in acute myeloid leukemia.

Aging
Zhang, Tingjuan T; Zhao, Yangli Y; Zhao, Yangjing Y; Zhou, Jingdong J
Publication Date: 2020-03-25

Variant appearance in text: TET2: L307R
PubMed Link: 32209730
Variant Present in the following documents:
  • aging-12-102928-s004..xlsx, sheet 2
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: 920T>G; Leu307Arg; rs145125867
PubMed Link: 31187595
Variant Present in the following documents:
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: 920T>G; Leu307Arg; rs145125867
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s3.xlsx, sheet 9
View BVdb publication page



Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.

Breast Cancer Research : Bcr
Li, Na N; Rowley, Simone M SM; Thompson, Ella R ER; McInerny, Simone S; Devereux, Lisa L; Amarasinghe, Kaushalya C KC; Zethoven, Magnus M; Lupat, Richard R; Goode, David D; Li, Jason J; Trainer, Alison H AH; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG
Publication Date: 2018-01-09

Variant appearance in text: TET2: 920T>G; Leu307Arg; rs145125867
PubMed Link: 29316957
Variant Present in the following documents:
  • 13058_2017_929_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Genomic analyses reveal recurrent mutations in epigenetic modifiers and the JAK-STAT pathway in Sézary syndrome.

Nature Communications
Kiel, Mark J MJ; Sahasrabuddhe, Anagh A AA; Rolland, Delphine C M DCM; Velusamy, Thirunavukkarasu T; Chung, Fuzon F; Schaller, Matthew M; Bailey, Nathanael G NG; Betz, Bryan L BL; Miranda, Roberto N RN; Porcu, Pierluigi P; Byrd, John C JC; Medeiros, L Jeffrey LJ; Kunkel, Steven L SL; Bahler, David W DW; Lim, Megan S MS; Elenitoba-Johnson, Kojo S J KSJ
Publication Date: 2015-09-29

Variant appearance in text: TET2: L307R
PubMed Link: 26415585
Variant Present in the following documents:
  • Main text
  • ncomms9470.pdf
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: TET2: L307R; rs145125867
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page