TET2 c.2053C>T ;(p.Q685*)

Variant ID: 4-106157152-C-T

NM_001127208.2(TET2):c.2053C>T;(p.Q685*)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Cheng, Wen-Yan WY; Li, Jian-Feng JF; Zhu, Yong-Mei YM; Lin, Xiang-Jie XJ; Wen, Li-Jun LJ; Zhang, Fan F; Zhang, Yu-Liang YL; Zhao, Ming M; Fang, Hai H; Wang, Sheng-Yue SY; Lin, Xiao-Jing XJ; Qiao, Niu N; Yin, Wei W; Zhang, Jia-Nan JN; Dai, Yu-Ting YT; Jiang, Lu L; Sun, Xiao-Jian XJ; Xu, Yi Y; Zhang, Tong-Tong TT; Chen, Su-Ning SN; Zhu, Hong-Hu HH; Chen, Zhu Z; Jin, Jie J; Wu, De-Pei DP; Shen, Yang Y; Chen, Sai-Juan SJ
Publication Date: 2022-12-06

Variant appearance in text: TET2: 2053C>T; Q685*
PubMed Link: 36442087
Variant Present in the following documents:
  • pnas.2211429119.sd02.xlsx, sheet 1
View BVdb publication page



RUNX1 mutations contribute to the progression of MDS due to disruption of antitumor cellular defense: a study on patients with lower-risk MDS.

Leukemia
Kaisrlikova, Monika M; Vesela, Jitka J; Kundrat, David D; Votavova, Hana H; Dostalova Merkerova, Michaela M; Krejcik, Zdenek Z; Divoky, Vladimir V; Jedlicka, Marek M; Fric, Jan J; Klema, Jiri J; Mikulenkova, Dana D; Stastna Markova, Marketa M; Lauermannova, Marie M; Mertova, Jolana J; Soukupova Maaloufova, Jacqueline J; Jonasova, Anna A; Cermak, Jaroslav J; Belickova, Monika M
Publication Date: 2022-07

Variant appearance in text: TET2: 2053C>T; Gln685Ter
PubMed Link: 35505182
Variant Present in the following documents:
  • 41375_2022_1584_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Association of clonal hematopoiesis with chronic obstructive pulmonary disease.

Blood
Miller, Peter G PG; Qiao, Dandi D; Rojas-Quintero, Joselyn J; Honigberg, Michael C MC; Sperling, Adam S AS; Gibson, Christopher J CJ; Bick, Alexander G AG; Niroula, Abhishek A; McConkey, Marie E ME; Sandoval, Brittany B; Miller, Brian C BC; Shi, Weiwei W; Viswanathan, Kaushik K; Leventhal, Matthew M; Werner, Lillian L; Moll, Matthew M; Cade, Brian E BE; Barr, R Graham RG; Correa, Adolfo A; Cupples, L Adrienne LA; Gharib, Sina A SA; Jain, Deepti D; Gogarten, Stephanie M SM; Lange, Leslie A LA; London, Stephanie J SJ; Manichaikul, Ani A; O'Connor, George T GT; Oelsner, Elizabeth C EC; Redline, Susan S; Rich, Stephen S SS; Rotter, Jerome I JI; Ramachandran, Vasan V; Yu, Bing B; Sholl, Lynette L; Neuberg, Donna D; Jaiswal, Siddhartha S; Levy, Bruce D BD; Owen, Caroline A CA; Natarajan, Pradeep P; Silverman, Edwin K EK; van Galen, Peter P; Tesfaigzi, Yohannes Y; Cho, Michael H MH; Ebert, Benjamin L BL; ,
Publication Date: 2022-01-20

Variant appearance in text: TET2: Q685X
PubMed Link: 34855941
Variant Present in the following documents:
  • 10.1182-2021013531_bloodbld2021013531-suppl1.pdf
  • bloodBLD2021013531-suppl1.pdf
View BVdb publication page



Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.

Clinical And Translational Medicine
Li, Ziyang Z; Huang, Wensou W; Yin, Jiani C JC; Na, Chenglong C; Wu, Xue X; Shao, Yang Y; Ding, Huaxin H; Li, Jinming J
Publication Date: 2020-11

Variant appearance in text: TET2: 2053C>T; Q685X
PubMed Link: 33252848
Variant Present in the following documents:
  • CTM2-10-e222-s003.xlsx, sheet 1
View BVdb publication page



Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

Nature
Bick, Alexander G AG; Weinstock, Joshua S JS; Nandakumar, Satish K SK; Fulco, Charles P CP; Bao, Erik L EL; Zekavat, Seyedeh M SM; Szeto, Mindy D MD; Liao, Xiaotian X; Leventhal, Matthew J MJ; Nasser, Joseph J; Chang, Kyle K; Laurie, Cecelia C; Burugula, Bala Bharathi BB; Gibson, Christopher J CJ; Lin, Amy E AE; Taub, Margaret A MA; Aguet, Francois F; Ardlie, Kristin K; Mitchell, Braxton D BD; Barnes, Kathleen C KC; Moscati, Arden A; Fornage, Myriam M; Redline, Susan S; Psaty, Bruce M BM; Silverman, Edwin K EK; Weiss, Scott T ST; Palmer, Nicholette D ND; Vasan, Ramachandran S RS; Burchard, Esteban G EG; Kardia, Sharon L R SLR; He, Jiang J; Kaplan, Robert C RC; Smith, Nicholas L NL; Arnett, Donna K DK; Schwartz, David A DA; Correa, Adolfo A; de Andrade, Mariza M; Guo, Xiuqing X; Konkle, Barbara A BA; Custer, Brian B; Peralta, Juan M JM; Gui, Hongsheng H; Meyers, Deborah A DA; McGarvey, Stephen T ST; Chen, Ida Yii-Der IY; Shoemaker, M Benjamin MB; Peyser, Patricia A PA; Broome, Jai G JG; Gogarten, Stephanie M SM; Wang, Fei Fei FF; Wong, Quenna Q; Montasser, May E ME; Daya, Michelle M; Kenny, Eimear E EE; North, Kari E KE; Launer, Lenore J LJ; Cade, Brian E BE; Bis, Joshua C JC; Cho, Michael H MH; Lasky-Su, Jessica J; Bowden, Donald W DW; Cupples, L Adrienne LA; Mak, Angel C Y ACY; Becker, Lewis C LC; Smith, Jennifer A JA; Kelly, Tanika N TN; Aslibekyan, Stella S; Heckbert, Susan R SR; Tiwari, Hemant K HK; Yang, Ivana V IV; Heit, John A JA; Lubitz, Steven A SA; Johnsen, Jill M JM; Curran, Joanne E JE; Wenzel, Sally E SE; Weeks, Daniel E DE; Rao, Dabeeru C DC; Darbar, Dawood D; Moon, Jee-Young JY; Tracy, Russell P RP; Buth, Erin J EJ; Rafaels, Nicholas N; Loos, Ruth J F RJF; Durda, Peter P; Liu, Yongmei Y; Hou, Lifang L; Lee, Jiwon J; Kachroo, Priyadarshini P; Freedman, Barry I BI; Levy, Daniel D; Bielak, Lawrence F LF; Hixson, James E JE; Floyd, James S JS; Whitsel, Eric A EA; Ellinor, Patrick T PT; Irvin, Marguerite R MR; Fingerlin, Tasha E TE; Raffield, Laura M LM; Armasu, Sebastian M SM; Wheeler, Marsha M MM; Sabino, Ester C EC; Blangero, John J; Williams, L Keoki LK; Levy, Bruce D BD; Sheu, Wayne Huey-Herng WH; Roden, Dan M DM; Boerwinkle, Eric E; Manson, JoAnn E JE; Mathias, Rasika A RA; Desai, Pinkal P; Taylor, Kent D KD; Johnson, Andrew D AD; , ; Auer, Paul L PL; Kooperberg, Charles C; Laurie, Cathy C CC; Blackwell, Thomas W TW; Smith, Albert V AV; Zhao, Hongyu H; Lange, Ethan E; Lange, Leslie L; Rich, Stephen S SS; Rotter, Jerome I JI; Wilson, James G JG; Scheet, Paul P; Kitzman, Jacob O JO; Lander, Eric S ES; Engreitz, Jesse M JM; Ebert, Benjamin L BL; Reiner, Alexander P AP; Jaiswal, Siddhartha S; Abecasis, Gonçalo G; Sankaran, Vijay G VG; Kathiresan, Sekar S; Natarajan, Pradeep P
Publication Date: 2020-10

Variant appearance in text: TET2: Q685X
PubMed Link: 33057201
Variant Present in the following documents:
  • NIHMS1609346-supplement-1609346_SuppTables.xlsx, sheet 4
View BVdb publication page



Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing.

Leukemia
Arindrarto, Wibowo W; Borràs, Daniel M DM; de Groen, Ruben A L RAL; van den Berg, Redmar R RR; Locher, Irene J IJ; van Diessen, Saskia A M E SAME; van der Holst, Rosalie R; van der Meijden, Edith D ED; Honders, M Willy MW; de Leeuw, Rick H RH; Verlaat, Wina W; Jedema, Inge I; Kroes, Wilma G M WGM; Knijnenburg, Jeroen J; van Wezel, Tom T; Vermaat, Joost S P JSP; Valk, Peter J M PJM; Janssen, Bart B; de Knijff, Peter P; van Bergen, Cornelis A M CAM; van den Akker, Erik B EB; Hoen, Peter A C 't PAC'; Kiełbasa, Szymon M SM; Laros, Jeroen F J JFJ; Griffioen, Marieke M; Veelken, Hendrik H
Publication Date: 2021-01

Variant appearance in text: TET2: 2053C>T; Gln685Ter
PubMed Link: 32127641
Variant Present in the following documents:
  • 41375_2020_762_MOESM1_ESM.pdf
View BVdb publication page



A network flow-based method to predict anticancer drug sensitivity.

Plos One
Qin, Yufang Y; Chen, Ming M; Wang, Haiyun H; Zheng, Xiaoqi X
Publication Date: 2015

Variant appearance in text: TET2: Q685*
PubMed Link: 25992881
Variant Present in the following documents:
  • pone.0127380.s002.xlsx, sheet 1
View BVdb publication page



Clinical impact of gene mutations and lesions detected by SNP-array karyotyping in acute myeloid leukemia patients in the context of gemtuzumab ozogamicin treatment: results of the ALFA-0701 trial.

Oncotarget
Renneville, Aline A; Abdelali, Raouf Ben RB; Chevret, Sylvie S; Nibourel, Olivier O; Cheok, Meyling M; Pautas, Cécile C; Duléry, Rémy R; Boyer, Thomas T; Cayuela, Jean-Michel JM; Hayette, Sandrine S; Raffoux, Emmanuel E; Farhat, Hassan H; Boissel, Nicolas N; Terre, Christine C; Dombret, Hervé H; Castaigne, Sylvie S; Preudhomme, Claude C
Publication Date: 2014-02-28

Variant appearance in text: TET2: 2053C>T; Q685X
PubMed Link: 24659740
Variant Present in the following documents:
  • oncotarget-05-916-s001.pdf
View BVdb publication page



Systematic identification of genomic markers of drug sensitivity in cancer cells.

Nature
Garnett, Mathew J MJ; Edelman, Elena J EJ; Heidorn, Sonja J SJ; Greenman, Chris D CD; Dastur, Anahita A; Lau, King Wai KW; Greninger, Patricia P; Thompson, I Richard IR; Luo, Xi X; Soares, Jorge J; Liu, Qingsong Q; Iorio, Francesco F; Surdez, Didier D; Chen, Li L; Milano, Randy J RJ; Bignell, Graham R GR; Tam, Ah T AT; Davies, Helen H; Stevenson, Jesse A JA; Barthorpe, Syd S; Lutz, Stephen R SR; Kogera, Fiona F; Lawrence, Karl K; McLaren-Douglas, Anne A; Mitropoulos, Xeni X; Mironenko, Tatiana T; Thi, Helen H; Richardson, Laura L; Zhou, Wenjun W; Jewitt, Frances F; Zhang, Tinghu T; O'Brien, Patrick P; Boisvert, Jessica L JL; Price, Stacey S; Hur, Wooyoung W; Yang, Wanjuan W; Deng, Xianming X; Butler, Adam A; Choi, Hwan Geun HG; Chang, Jae Won JW; Baselga, Jose J; Stamenkovic, Ivan I; Engelman, Jeffrey A JA; Sharma, Sreenath V SV; Delattre, Olivier O; Saez-Rodriguez, Julio J; Gray, Nathanael S NS; Settleman, Jeffrey J; Futreal, P Andrew PA; Haber, Daniel A DA; Stratton, Michael R MR; Ramaswamy, Sridhar S; McDermott, Ultan U; Benes, Cyril H CH
Publication Date: 2012-03-28

Variant appearance in text: TET2: Q685*
PubMed Link: 22460902
Variant Present in the following documents:
  • NIHMS47188-supplement-supp_data.xlsx, sheet 2
View BVdb publication page