TET2 c.3861del ;(p.F1287Lfs*76)

Variant ID: 4-106180829-CT-C

NM_001127208.2(TET2):c.3861del;(p.F1287Lfs*76)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Minor intron retention drives clonal hematopoietic disorders and diverse cancer predisposition.

Nature Genetics
Inoue, Daichi D; Polaski, Jacob T JT; Taylor, Justin J; Castel, Pau P; Chen, Sisi S; Kobayashi, Susumu S; Hogg, Simon J SJ; Hayashi, Yasutaka Y; Pineda, Jose Mario Bello JMB; El Marabti, Ettaib E; Erickson, Caroline C; Knorr, Katherine K; Fukumoto, Miki M; Yamazaki, Hiromi H; Tanaka, Atsushi A; Fukui, Chie C; Lu, Sydney X SX; Durham, Benjamin H BH; Liu, Bo B; Wang, Eric E; Mehta, Sanjoy S; Zakheim, Daniel D; Garippa, Ralph R; Penson, Alex A; Chew, Guo-Liang GL; McCormick, Frank F; Bradley, Robert K RK; Abdel-Wahab, Omar O
Publication Date: 2021-05

Variant appearance in text: TET2: F1287fs*76
PubMed Link: 33846634
Variant Present in the following documents:
  • NIHMS1677478-supplement-Supplementary_Tables_1-10.xlsx, sheet 1
View BVdb publication page



Minor intron retention drives clonal hematopoietic disorders and diverse cancer predisposition.

Nature Genetics
Inoue, Daichi D; Polaski, Jacob T JT; Taylor, Justin J; Castel, Pau P; Chen, Sisi S; Kobayashi, Susumu S; Hogg, Simon J SJ; Hayashi, Yasutaka Y; Pineda, Jose Mario Bello JMB; El Marabti, Ettaib E; Erickson, Caroline C; Knorr, Katherine K; Fukumoto, Miki M; Yamazaki, Hiromi H; Tanaka, Atsushi A; Fukui, Chie C; Lu, Sydney X SX; Durham, Benjamin H BH; Liu, Bo B; Wang, Eric E; Mehta, Sanjoy S; Zakheim, Daniel D; Garippa, Ralph R; Penson, Alex A; Chew, Guo-Liang GL; McCormick, Frank F; Bradley, Robert K RK; Abdel-Wahab, Omar O
Publication Date: 2021-05

Variant appearance in text: TET2: F1287fs*76
PubMed Link: 33846634
Variant Present in the following documents:
  • NIHMS1677478-supplement-Supplementary_Tables_1-10.xlsx, sheet 1
View BVdb publication page



Prediction of acute myeloid leukaemia risk in healthy individuals.

Nature
Abelson, Sagi S; Collord, Grace G; Ng, Stanley W K SWK; Weissbrod, Omer O; Mendelson Cohen, Netta N; Niemeyer, Elisabeth E; Barda, Noam N; Zuzarte, Philip C PC; Heisler, Lawrence L; Sundaravadanam, Yogi Y; Luben, Robert R; Hayat, Shabina S; Wang, Ting Ting TT; Zhao, Zhen Z; Cirlan, Iulia I; Pugh, Trevor J TJ; Soave, David D; Ng, Karen K; Latimer, Calli C; Hardy, Claire C; Raine, Keiran K; Jones, David D; Hoult, Diana D; Britten, Abigail A; McPherson, John D JD; Johansson, Mattias M; Mbabaali, Faridah F; Eagles, Jenna J; Miller, Jessica K JK; Pasternack, Danielle D; Timms, Lee L; Krzyzanowski, Paul P; Awadalla, Philip P; Costa, Rui R; Segal, Eran E; Bratman, Scott V SV; Beer, Philip P; Behjati, Sam S; Martincorena, Inigo I; Wang, Jean C Y JCY; Bowles, Kristian M KM; Quirós, J Ramón JR; Karakatsani, Anna A; La Vecchia, Carlo C; Trichopoulou, Antonia A; Salamanca-Fernández, Elena E; Huerta, José M JM; Barricarte, Aurelio A; Travis, Ruth C RC; Tumino, Rosario R; Masala, Giovanna G; Boeing, Heiner H; Panico, Salvatore S; Kaaks, Rudolf R; Krämer, Alwin A; Sieri, Sabina S; Riboli, Elio E; Vineis, Paolo P; Foll, Matthieu M; McKay, James J; Polidoro, Silvia S; Sala, Núria N; Khaw, Kay-Tee KT; Vermeulen, Roel R; Campbell, Peter J PJ; Papaemmanuil, Elli E; Minden, Mark D MD; Tanay, Amos A; Balicer, Ran D RD; Wareham, Nicholas J NJ; Gerstung, Moritz M; Dick, John E JE; Brennan, Paul P; Vassiliou, George S GS; Shlush, Liran I LI
Publication Date: 2018-07

Variant appearance in text: TET2: F1287fs*76
PubMed Link: 29988082
Variant Present in the following documents:
  • NIHMS77608-supplement-Supplementary_Table_2.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: 3861delT; Phe1287fs
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s5.xlsx, sheet 8
  • bty518_supplementary_data_s10.xlsx, sheet 8
  • bty518_supplementary_data_s5.xlsx, sheet 7
View BVdb publication page