TET2 c.3897G>C ;(p.K1299N)

Variant ID: 4-106180869-G-C

NM_001127208.2(TET2):c.3897G>C;(p.K1299N)

This variant was identified in 11 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: K1299N
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
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: K1299N
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



USP15 suppresses tumor immunity via deubiquitylation and inactivation of TET2.

Science Advances
Chen, Lei-Lei LL; Smith, Matthew D MD; Lv, Lei L; Nakagawa, Tadashi T; Li, Zhijun Z; Sun, Shao-Cong SC; Brown, Nicholas G NG; Xiong, Yue Y; Xu, Yan-Ping YP
Publication Date: 2020-09

Variant appearance in text: TET2: K1299N
PubMed Link: 32948596
Variant Present in the following documents:
  • Main text
  • abc9730.pdf
  • abc9730_SM.pdf
View BVdb publication page



USP15 suppresses tumor immunity via deubiquitylation and inactivation of TET2.

Science Advances
Chen, Lei-Lei LL; Smith, Matthew D MD; Lv, Lei L; Nakagawa, Tadashi T; Li, Zhijun Z; Sun, Shao-Cong SC; Brown, Nicholas G NG; Xiong, Yue Y; Xu, Yan-Ping YP
Publication Date: 2020-09

Variant appearance in text: TET2: K1299N
PubMed Link: 32948596
Variant Present in the following documents:
  • Main text
  • abc9730_SM.pdf
  • abc9730.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: 3897G>C; Lys1299Asn
PubMed Link: 31187595
Variant Present in the following documents:
View BVdb publication page



DCAF1 (VprBP): emerging physiological roles for a unique dual-service E3 ubiquitin ligase substrate receptor.

Journal Of Molecular Cell Biology
Schabla, N Max NM; Mondal, Koushik K; Swanson, Patrick C PC
Publication Date: 2019-09-19

Variant appearance in text: TET2: K1299N
PubMed Link: 30590706
Variant Present in the following documents:
  • Main text
  • mjy085.pdf
View BVdb publication page



Vpr Targets TET2 for Degradation by CRL4VprBP E3 Ligase to Sustain IL-6 Expression and Enhance HIV-1 Replication.

Molecular Cell
Lv, Lei L; Wang, Qi Q; Xu, Yanping Y; Tsao, Li-Chung LC; Nakagawa, Tadashi T; Guo, Haitao H; Su, Lishan L; Xiong, Yue Y
Publication Date: 2018-06-07

Variant appearance in text: TET2: K1299N
PubMed Link: 29883611
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: TET2: K1299N
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



The TET2 interactors and their links to hematological malignancies.

Iubmb Life
Pan, Feng F; Weeks, Ophelia O; Yang, Feng-Chun FC; Xu, Mingjiang M
Publication Date: 2015-06

Variant appearance in text: TET2: K1299N
PubMed Link: 26099018
Variant Present in the following documents:
  • Main text
View BVdb publication page



CRL4(VprBP) E3 ligase promotes monoubiquitylation and chromatin binding of TET dioxygenases.

Molecular Cell
Nakagawa, Tadashi T; Lv, Lei L; Nakagawa, Makiko M; Yu, Yanbao Y; Yu, Chao C; D'Alessio, Ana C AC; Nakayama, Keiko K; Fan, Heng-Yu HY; Chen, Xian X; Xiong, Yue Y
Publication Date: 2015-01-22

Variant appearance in text: TET2: K1299N
PubMed Link: 25557551
Variant Present in the following documents:
  • Main text
View BVdb publication page



Feature-based classification of amino acid substitutions outside conserved functional protein domains.

Thescientificworldjournal
Gemovic, Branislava B; Perovic, Vladimir V; Glisic, Sanja S; Veljkovic, Nevena N
Publication Date: 2013

Variant appearance in text: TET2: K1299N
PubMed Link: 24348198
Variant Present in the following documents:
  • 948617.f1.pdf
View BVdb publication page



Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms.

Blood
Jankowska, Anna M AM; Szpurka, Hadrian H; Tiu, Ramon V RV; Makishima, Hideki H; Afable, Manuel M; Huh, Jungwon J; O'Keefe, Christine L CL; Ganetzky, Rebecca R; McDevitt, Michael A MA; Maciejewski, Jaroslaw P JP
Publication Date: 2009-06-18

Variant appearance in text: TET2: K1299N
PubMed Link: 19372255
Variant Present in the following documents:
  • Main text
View BVdb publication page