TET2 c.950del ;(p.Q317Rfs*30)

Variant ID: 4-106156049-CA-C

NM_001127208.2(TET2):c.950del;(p.Q317Rfs*30)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Heterogeneous genetic and non-genetic mechanisms contribute to response and resistance to azacitidine monotherapy.

Ejhaem
Symeonidou, Vasiliki V; Metzner, Marlen M; Usukhbayar, Batchimeg B; Jackson, Aimee E AE; Fox, Sonia S; Craddock, Charles F CF; Vyas, Paresh P
Publication Date: 2022-08

Variant appearance in text: TET2: Q317Rfs*30
PubMed Link: 36051087
Variant Present in the following documents:
  • JHA2-3-794-s003.xlsx, sheet 1
View BVdb publication page



DNA methylation epitypes highlight underlying developmental and disease pathways in acute myeloid leukemia.

Genome Research
Giacopelli, Brian B; Wang, Min M; Cleary, Ada A; Wu, Yue-Zhong YZ; Schultz, Anna Reister AR; Schmutz, Maximilian M; Blachly, James S JS; Eisfeld, Ann-Kathrin AK; Mundy-Bosse, Bethany B; Vosberg, Sebastian S; Greif, Philipp A PA; Claus, Rainer R; Bullinger, Lars L; Garzon, Ramiro R; Coombes, Kevin R KR; Bloomfield, Clara D CD; Druker, Brian J BJ; Tyner, Jeffrey W JW; Byrd, John C JC; Oakes, Christopher C CC
Publication Date: 2021-05

Variant appearance in text: TET2: Q317Rfs*30
PubMed Link: 33707228
Variant Present in the following documents:
  • supp_gr.269233.120_Supplemental_Tables_S1_S2_S8-11.xlsx, sheet 5
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: TET2: Q317Rfs*30
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page