TET2 c.4249G>T ;(p.V1417F)

Variant ID: 4-106193787-G-T

NM_001127208.2(TET2):c.4249G>T;(p.V1417F)

This variant was identified in 24 publications

View GRCh38 version.




Publications:


Dynamics of age- versus therapy-related clonal hematopoiesis in long-term survivors of pediatric cancer.

Cancer Discovery
Hagiwara, Kohei K; Natarajan, Sivaraman S; Wang, Zhaoming Z; Zubair, Haseeb H; Mulder, Heather L HL; Dong, Li L; Plyler, Emily M EM; Thimmaiah, Padma P; Ma, Xiaotu X; Ness, Kirsten K KK; Li, Zhenghong Z; Mulrooney, Daniel A DA; Wilson, Carmen L CL; Yasui, Yutaka Y; Hudson, Melissa M MM; Easton, John J; Robison, Leslie L LL; Zhang, Jinghui J
Publication Date: 2023-02-08

Variant appearance in text: TET2: V1417F
PubMed Link: 36751942
Variant Present in the following documents:
  • cd-22-0956_tables_s2_s7_s8_s9_suppst1.xlsx, sheet 1
  • cd-22-0956_tables_s2_s7_s8_s9_suppst1.xlsx, sheet 4
View BVdb publication page



Inhibition of interleukin-1β reduces myelofibrosis and osteosclerosis in mice with JAK2-V617F driven myeloproliferative neoplasm.

Nature Communications
Rai, Shivam S; Grockowiak, Elodie E; Hansen, Nils N; Luque Paz, Damien D; Stoll, Cedric B CB; Hao-Shen, Hui H; Mild-Schneider, Gabriele G; Dirnhofer, Stefan S; Farady, Christopher J CJ; Méndez-Ferrer, Simón S; Skoda, Radek C RC
Publication Date: 2022-09-13

Variant appearance in text: TET2: Val1417Phe
PubMed Link: 36100613
Variant Present in the following documents:
  • 41467_2022_32927_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



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: V1417F
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: V1417F
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM9_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM11_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 2
  • 41586_2022_4785_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Multi-region exome sequencing reveals the intratumoral heterogeneity of surgically resected small cell lung cancer.

Nature Communications
Zhou, Huaqiang H; Hu, Yi Y; Luo, Rongzhen R; Zhao, Yuanyuan Y; Pan, Hui H; Ji, Liyan L; Zhou, Ting T; Zhang, Lanjun L; Long, Hao H; Fu, Jianhua J; Wen, Zhesheng Z; Wang, Siyu S; Wang, Xin X; Lin, Peng P; Yang, Haoxian H; Wang, Junye J; Song, Mengmeng M; Yi, Xin X; Yang, Ling L; Xia, Xuefang X; Guan, Yanfang Y; Fang, Wenfeng W; Yang, Yunpeng Y; Hong, Shaodong S; Huang, Yan Y; Li, Pansong P; Zhang, Yaxiong Y; Zhou, Ningning N
Publication Date: 2021-09-14

Variant appearance in text: TET2: 4249G>T; Val1417Phe; rs749210253
PubMed Link: 34521849
Variant Present in the following documents:
  • 41467_2021_25787_MOESM10_ESM.xlsx, sheet 7
  • 41467_2021_25787_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease.

Leukemia
Dawoud, Ahmed A Z AAZ; Gilbert, Rodney D RD; Tapper, William J WJ; Cross, Nicholas C P NCP
Publication Date: 2022-02

Variant appearance in text: TET2: V1417F
PubMed Link: 34413458
Variant Present in the following documents:
  • 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic mechanisms of HLA-I loss and immune escape in diffuse large B cell lymphoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Fangazio, Marco M; Ladewig, Erik E; Gomez, Karen K; Garcia-Ibanez, Laura L; Kumar, Rahul R; Teruya-Feldstein, Julie J; Rossi, Davide D; Filip, Ioan I; Pan-Hammarström, Qiang Q; Inghirami, Giorgio G; Boldorini, Renzo R; Ott, German G; Staiger, Annette M AM; Chapuy, Björn B; Gaidano, Gianluca G; Bhagat, Govind G; Basso, Katia K; Rabadan, Raul R; Pasqualucci, Laura L; Dalla-Favera, Riccardo R
Publication Date: 2021-06-01

Variant appearance in text: TET2: V1417F
PubMed Link: 34050029
Variant Present in the following documents:
  • pnas.2104504118.sd02.xlsx, sheet 1
View BVdb publication page



Early detection of T-cell lymphoma with T follicular helper phenotype by RHOA mutation analysis.

Haematologica
Dobson, Rachel R; Du, Peter Y PY; Rásó-Barnett, Lívia L; Yao, Wen-Qing WQ; Chen, Zi Z; Casa, Calogero C; Ei-Daly, Hesham H; Farkas, Lorant L; Soilleux, Elizabeth E; Wright, Penny P; Grant, John W JW; Rodriguez-Justo, Manuel M; Follows, George A GA; Rashed, Hala H; Fabre, Margarete M; Baxter, E Joanna EJ; Vassiliou, George G; Wotherspoon, Andrew A; Attygalle, Ayoma D AD; Liu, Hongxiang H; Du, Ming-Qing MQ
Publication Date: 2022-02-01

Variant appearance in text: TET2: V1417F
PubMed Link: 33567811
Variant Present in the following documents:
  • 2020_265991_DOBSON_SUPPL.pdf
View BVdb publication page



Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.

Science Advances
Abelson, Sagi S; Zeng, Andy G X AGX; Nofech-Mozes, Ido I; Wang, Ting Ting TT; Ng, Stanley W K SWK; Minden, Mark D MD; Pugh, Trevor J TJ; Awadalla, Philip P; Shlush, Liran I LI; Murphy, Tracy T; Chan, Steven M SM; Dick, John E JE; Bratman, Scott V SV
Publication Date: 2020-12

Variant appearance in text: TET2: V1417F
PubMed Link: 33298453
Variant Present in the following documents:
  • abe3722_Table_S3.xlsx, sheet 5
  • abe3722_Table_S3.xlsx, sheet 3
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: V1417F
PubMed Link: 33057201
Variant Present in the following documents:
  • NIHMS1609346-supplement-1609346_SuppTables.xlsx, sheet 4
View BVdb publication page



Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.

Nature Communications
Nagata, Yasunobu Y; Makishima, Hideki H; Kerr, Cassandra M CM; Przychodzen, Bartlomiej P BP; Aly, Mai M; Goyal, Abhinav A; Awada, Hassan H; Asad, Mohammad Fahad MF; Kuzmanovic, Teodora T; Suzuki, Hiromichi H; Yoshizato, Tetsuichi T; Yoshida, Kenichi K; Chiba, Kenichi K; Tanaka, Hiroko H; Shiraishi, Yuichi Y; Miyano, Satoru S; Mukherjee, Sudipto S; LaFramboise, Thomas T; Nazha, Aziz A; Sekeres, Mikkael A MA; Radivoyevitch, Tomas T; Haferlach, Torsten T; Ogawa, Seishi S; Maciejewski, Jaroslaw P JP
Publication Date: 2019-11-26

Variant appearance in text: TET2: V1417F
PubMed Link: 31772163
Variant Present in the following documents:
  • 41467_2019_13001_MOESM4_ESM.xlsx, sheet 1
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: 4249G>T; Val1417Phe
PubMed Link: 31187595
Variant Present in the following documents:
View BVdb publication page



The prognostic impact of tet oncogene family member 2 mutations in patients with acute myeloid leukemia: a systematic-review and meta-analysis.

Bmc Cancer
Wang, Ruiqi R; Gao, Xiaoning X; Yu, Li L
Publication Date: 2019-04-25

Variant appearance in text: TET2: V1417F
PubMed Link: 31023266
Variant Present in the following documents:
  • 12885_2019_5602_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Single cell analysis of clonal architecture in acute myeloid leukaemia.

Leukemia
Potter, Nicola N; Miraki-Moud, Farideh F; Ermini, Luca L; Titley, Ian I; Vijayaraghavan, Gowri G; Papaemmanuil, Elli E; Campbell, Peter P; Gribben, John J; Taussig, David D; Greaves, Mel M
Publication Date: 2019-05

Variant appearance in text: TET2: V1417F
PubMed Link: 30568172
Variant Present in the following documents:
  • Main text
  • 41375_2018_Article_319.pdf
View BVdb publication page



Proteomic and genomic integration identifies kinase and differentiation determinants of kinase inhibitor sensitivity in leukemia cells.

Leukemia
Casado, Pedro P; Wilkes, Edmund H EH; Miraki-Moud, Farideh F; Hadi, Marym Mohammad MM; Rio-Machin, Ana A; Rajeeve, Vinothini V; Pike, Rebecca R; Iqbal, Sameena S; Marfa, Santiago S; Lea, Nicholas N; Best, Steven S; Gribben, John J; Fitzgibbon, Jude J; Cutillas, Pedro R PR
Publication Date: 2018-08

Variant appearance in text: TET2: Val1417Phe
PubMed Link: 29626197
Variant Present in the following documents:
  • 41375_2018_32_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: TET2: V1417F
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 3
View BVdb publication page



Comprehensive Molecular Profiling of Archival Bone Marrow Trephines Using a Commercially Available Leukemia Panel and Semiconductor-Based Targeted Resequencing.

Plos One
Bartels, Stephan S; Schipper, Elisa E; Kreipe, Hans Heinrich HH; Lehmann, Ulrich U
Publication Date: 2015

Variant appearance in text: TET2: V1417F
PubMed Link: 26222071
Variant Present in the following documents:
  • Main text
  • pone.0133930.pdf
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: V1417F
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



TET2 Mutations Affect Non-CpG Island DNA Methylation at Enhancers and Transcription Factor-Binding Sites in Chronic Myelomonocytic Leukemia.

Cancer Research
Yamazaki, Jumpei J; Jelinek, Jaroslav J; Lu, Yue Y; Cesaroni, Matteo M; Madzo, Jozef J; Neumann, Frank F; He, Rong R; Taby, Rodolphe R; Vasanthakumar, Aparna A; Macrae, Trisha T; Ostler, Kelly R KR; Kantarjian, Hagop M HM; Liang, Shoudan S; Estecio, Marcos R MR; Godley, Lucy A LA; Issa, Jean-Pierre J JP
Publication Date: 2015-07-15

Variant appearance in text: TET2: V1417F
PubMed Link: 25972343
Variant Present in the following documents:
  • Main text
View BVdb publication page



Somatic SETBP1 mutations in myeloid malignancies.

Nature Genetics
Makishima, Hideki H; Yoshida, Kenichi K; Nguyen, Nhu N; Przychodzen, Bartlomiej B; Sanada, Masashi M; Okuno, Yusuke Y; Ng, Kwok Peng KP; Gudmundsson, Kristbjorn O KO; Vishwakarma, Bandana A BA; Jerez, Andres A; Gomez-Segui, Ines I; Takahashi, Mariko M; Shiraishi, Yuichi Y; Nagata, Yasunobu Y; Guinta, Kathryn K; Mori, Hiraku H; Sekeres, Mikkael A MA; Chiba, Kenichi K; Tanaka, Hiroko H; Muramatsu, Hideki H; Sakaguchi, Hirotoshi H; Paquette, Ronald L RL; McDevitt, Michael A MA; Kojima, Seiji S; Saunthararajah, Yogen Y; Miyano, Satoru S; Shih, Lee-Yung LY; Du, Yang Y; Ogawa, Seishi S; Maciejewski, Jaroslaw P JP
Publication Date: 2013-08

Variant appearance in text: TET2: 4249G>T; Val1417Phe
PubMed Link: 23832012
Variant Present in the following documents:
View BVdb publication page



Effects of TET2 mutations on DNA methylation in chronic myelomonocytic leukemia.

Epigenetics
Yamazaki, Jumpei J; Taby, Rodolphe R; Vasanthakumar, Aparna A; Macrae, Trisha T; Ostler, Kelly R KR; Shen, Lanlan L; Kantarjian, Hagop M HM; Estecio, Marcos R MR; Jelinek, Jaroslav J; Godley, Lucy A LA; Issa, Jean-Pierre J JP
Publication Date: 2012-02

Variant appearance in text: TET2: V1417F
PubMed Link: 22395470
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cytogenetic and molecular predictors of response in patients with myeloid malignancies without del[5q] treated with lenalidomide.

Journal Of Hematology & Oncology
Sugimoto, Yuka Y; Sekeres, Mikkael A MA; Makishima, Hideki H; Traina, Fabiola F; Visconte, Valeria V; Jankowska, Anna A; Jerez, Andres A; Szpurka, Hadrian H; O'Keefe, Christine L CL; Guinta, Kathryn K; Afable, Manuel M; Tiu, Ramon R; McGraw, Kathy L KL; List, Alan F AF; Maciejewski, Jaroslaw J
Publication Date: 2012-03-05

Variant appearance in text: TET2: V1417F
PubMed Link: 22390313
Variant Present in the following documents:
  • Main text
  • 1756-8722-5-4.pdf
View BVdb publication page



Phase I combination trial of lenalidomide and azacitidine in patients with higher-risk myelodysplastic syndromes.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Sekeres, Mikkael A MA; List, Alan F AF; Cuthbertson, David D; Paquette, Ronald R; Ganetzky, Rebecca R; Ganetsky, Rebecca R; Latham, Deborah D; Paulic, Katarina K; Afable, Manuel M; Saba, Hussain I HI; Loughran, Thomas P TP; Maciejewski, Jaroslaw P JP
Publication Date: 2010-05-01

Variant appearance in text: TET2: V1417F
PubMed Link: 20354132
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies.

Blood
Abdel-Wahab, Omar O; Mullally, Ann A; Hedvat, Cyrus C; Garcia-Manero, Guillermo G; Patel, Jay J; Wadleigh, Martha M; Malinge, Sebastien S; Yao, JinJuan J; Kilpivaara, Outi O; Bhat, Rukhmi R; Huberman, Kety K; Thomas, Sabrena S; Dolgalev, Igor I; Heguy, Adriana A; Paietta, Elisabeth E; Le Beau, Michelle M MM; Beran, Miloslav M; Tallman, Martin S MS; Ebert, Benjamin L BL; Kantarjian, Hagop M HM; Stone, Richard M RM; Gilliland, D Gary DG; Crispino, John D JD; Levine, Ross L RL
Publication Date: 2009-07-02

Variant appearance in text: TET2: V1417F
PubMed Link: 19420352
Variant Present in the following documents:
  • Main text
View BVdb publication page