TET2 c.4139A>T ;(p.H1380L)

Variant ID: 4-106190861-A-T

NM_001127208.2(TET2):c.4139A>T;(p.H1380L)

This variant was identified in 7 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: H1380L
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Mutations in genes affecting DNA methylation enhances responses to decitabine in patients with myelodysplastic syndrome.

The Korean Journal Of Internal Medicine
Jung, Hyun Ae HA; Jung, Chul Won CW; Jang, Jun Ho JH
Publication Date: 2021-03

Variant appearance in text: TET2: His1380Leu
PubMed Link: 33086776
Variant Present in the following documents:
  • Main text
  • kjim-2019-385.pdf
  • kjim-2019-385-suppl.pdf
View BVdb publication page



The DNA methylation landscape of advanced prostate cancer.

Nature Genetics
Zhao, Shuang G SG; Chen, William S WS; Li, Haolong H; Foye, Adam A; Zhang, Meng M; Sjöström, Martin M; Aggarwal, Rahul R; Playdle, Denise D; Liao, Arnold A; Alumkal, Joshi J JJ; Das, Rajdeep R; Chou, Jonathan J; Hua, Junjie T JT; Barnard, Travis J TJ; Bailey, Adina M AM; Chow, Eric D ED; Perry, Marc D MD; Dang, Ha X HX; Yang, Rendong R; Moussavi-Baygi, Ruhollah R; Zhang, Li L; Alshalalfa, Mohammed M; Laura Chang, S S; Houlahan, Kathleen E KE; Shiah, Yu-Jia YJ; Beer, Tomasz M TM; Thomas, George G; Chi, Kim N KN; Gleave, Martin M; Zoubeidi, Amina A; Reiter, Robert E RE; Rettig, Matthew B MB; Witte, Owen O; Yvonne Kim, M M; Fong, Lawrence L; Spratt, Daniel E DE; Morgan, Todd M TM; Bose, Rohit R; Huang, Franklin W FW; Li, Hui H; Chesner, Lisa L; Shenoy, Tanushree T; Goodarzi, Hani H; Asangani, Irfan A IA; Sandhu, Shahneen S; Lang, Joshua M JM; Mahajan, Nupam P NP; Lara, Primo N PN; Evans, Christopher P CP; Febbo, Phillip P; Batzoglou, Serafim S; Knudsen, Karen E KE; He, Housheng H HH; Huang, Jiaoti J; Zwart, Wilbert W; Costello, Joseph F JF; Luo, Jianhua J; Tomlins, Scott A SA; Wyatt, Alexander W AW; Dehm, Scott M SM; Ashworth, Alan A; Gilbert, Luke A LA; Boutros, Paul C PC; Farh, Kyle K; Chinnaiyan, Arul M AM; Maher, Christopher A CA; Small, Eric J EJ; Quigley, David A DA; Feng, Felix Y FY
Publication Date: 2020-08

Variant appearance in text: TET2: 4139A>T; H1380L
PubMed Link: 32661416
Variant Present in the following documents:
  • Main text
  • nihms-1596859.pdf
  • NIHMS1596859-supplement-1596859_Sup_Tab_1-10.xlsx, sheet 3
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: 4139A>T; His1380Leu
PubMed Link: 31187595
Variant Present in the following documents:
View BVdb publication page



Comprehensive genomic and immunological characterization of Chinese non-small cell lung cancer patients.

Nature Communications
Zhang, Xu-Chao XC; Wang, Jun J; Shao, Guo-Guang GG; Wang, Qun Q; Qu, Xiaotao X; Wang, Bo B; Moy, Christopher C; Fan, Yue Y; Albertyn, Zayed Z; Huang, Xiayu X; Zhang, Jingyu J; Qiu, Yang Y; Platero, Suso S; Lorenzi, Matthew V MV; Zudaire, Enrique E; Yang, Jennifer J; Cheng, Ying Y; Xu, Lin L; Wu, Yi-Long YL
Publication Date: 2019-04-16

Variant appearance in text: TET2: H1380L
PubMed Link: 30992440
Variant Present in the following documents:
  • 41467_2019_9762_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page



Functional genomic landscape of acute myeloid leukaemia.

Nature
Tyner, Jeffrey W JW; Tognon, Cristina E CE; Bottomly, Daniel D; Wilmot, Beth B; Kurtz, Stephen E SE; Savage, Samantha L SL; Long, Nicola N; Schultz, Anna Reister AR; Traer, Elie E; Abel, Melissa M; Agarwal, Anupriya A; Blucher, Aurora A; Borate, Uma U; Bryant, Jade J; Burke, Russell R; Carlos, Amy A; Carpenter, Richie R; Carroll, Joseph J; Chang, Bill H BH; Coblentz, Cody C; d'Almeida, Amanda A; Cook, Rachel R; Danilov, Alexey A; Dao, Kim-Hien T KT; Degnin, Michie M; Devine, Deirdre D; Dibb, James J; Edwards, David K DK; Eide, Christopher A CA; English, Isabel I; Glover, Jason J; Henson, Rachel R; Ho, Hibery H; Jemal, Abdusebur A; Johnson, Kara K; Johnson, Ryan R; Junio, Brian B; Kaempf, Andy A; Leonard, Jessica J; Lin, Chenwei C; Liu, Selina Qiuying SQ; Lo, Pierrette P; Loriaux, Marc M MM; Luty, Samuel S; Macey, Tara T; MacManiman, Jason J; Martinez, Jacqueline J; Mori, Motomi M; Nelson, Dylan D; Nichols, Ceilidh C; Peters, Jill J; Ramsdill, Justin J; Rofelty, Angela A; Schuff, Robert R; Searles, Robert R; Segerdell, Erik E; Smith, Rebecca L RL; Spurgeon, Stephen E SE; Sweeney, Tyler T; Thapa, Aashis A; Visser, Corinne C; Wagner, Jake J; Watanabe-Smith, Kevin K; Werth, Kristen K; Wolf, Joelle J; White, Libbey L; Yates, Amy A; Zhang, Haijiao H; Cogle, Christopher R CR; Collins, Robert H RH; Connolly, Denise C DC; Deininger, Michael W MW; Drusbosky, Leylah L; Hourigan, Christopher S CS; Jordan, Craig T CT; Kropf, Patricia P; Lin, Tara L TL; Martinez, Micaela E ME; Medeiros, Bruno C BC; Pallapati, Rachel R RR; Pollyea, Daniel A DA; Swords, Ronan T RT; Watts, Justin M JM; Weir, Scott J SJ; Wiest, David L DL; Winters, Ryan M RM; McWeeney, Shannon K SK; Druker, Brian J BJ
Publication Date: 2018-10

Variant appearance in text: TET2: 4139A>T; H1380L
PubMed Link: 30333627
Variant Present in the following documents:
  • NIHMS1504008-supplement-Supplementary_Tables_S1-S22.xlsx, sheet 16
  • NIHMS1504008-supplement-Supplementary_Tables_S1-S22.xlsx, sheet 7
View BVdb publication page



Cellular stressors contribute to the expansion of hematopoietic clones of varying leukemic potential.

Nature Communications
Wong, Terrence N TN; Miller, Christopher A CA; Jotte, Matthew R M MRM; Bagegni, Nusayba N; Baty, Jack D JD; Schmidt, Amy P AP; Cashen, Amanda F AF; Duncavage, Eric J EJ; Helton, Nichole M NM; Fiala, Mark M; Fulton, Robert S RS; Heath, Sharon E SE; Janke, Megan M; Luber, Kierstin K; Westervelt, Peter P; Vij, Ravi R; DiPersio, John F JF; Welch, John S JS; Graubert, Timothy A TA; Walter, Matthew J MJ; Ley, Timothy J TJ; Link, Daniel C DC
Publication Date: 2018-01-31

Variant appearance in text: TET2: H1380L
PubMed Link: 29386642
Variant Present in the following documents:
  • 41467_2018_2858_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page