TET2 c.3685C>A ;(p.L1229I)

Variant ID: 4-106164817-C-A

NM_001127208.2(TET2):c.3685C>A;(p.L1229I)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: L1229I
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
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: L1229I
PubMed Link: 31187595
Variant Present in the following documents:
  • Main text
  • MGG3-7-e00772.pdf
View BVdb publication page



SNIP1 Recruits TET2 to Regulate c-MYC Target Genes and Cellular DNA Damage Response.

Cell Reports
Chen, Lei-Lei LL; Lin, Huai-Peng HP; Zhou, Wen-Jie WJ; He, Chen-Xi CX; Zhang, Zhi-Yong ZY; Cheng, Zhou-Li ZL; Song, Jun-Bin JB; Liu, Peng P; Chen, Xin-Yu XY; Xia, Yu-Kun YK; Chen, Xiu-Fei XF; Sun, Ren-Qiang RQ; Zhang, Jing-Ye JY; Sun, Yi-Ping YP; Song, Lei L; Liu, Bing-Jie BJ; Du, Rui-Kai RK; Ding, Chen C; Lan, Fei F; Huang, Sheng-Lin SL; Zhou, Feng F; Liu, Suling S; Xiong, Yue Y; Ye, Dan D; Guan, Kun-Liang KL
Publication Date: 2018-11-06

Variant appearance in text: TET2: L1229I
PubMed Link: 30404004
Variant Present in the following documents:
  • NIHMS1512145-supplement-3.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: 3685C>A; Leu1229Ile
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s3.xlsx, sheet 9
  • bty518_supplementary_data_s4.xlsx, sheet 9
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: TET2: L1229I
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page