TET2 c.5062_5063del ;(p.S1688Ffs*4)

Variant ID: 4-106196726-CAG-C

NM_001127208.2(TET2):c.5062_5063del;(p.S1688Ffs*4)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Myelodysplastic Syndrome associated TET2 mutations affect NK cell function and genome methylation.

Nature Communications
Boy, Maxime M; Bisio, Valeria V; Zhao, Lin-Pierre LP; Guidez, Fabien F; Schell, Bérénice B; Lereclus, Emilie E; Henry, Guylaine G; Villemonteix, Juliette J; Rodrigues-Lima, Fernando F; Gagne, Katia K; Retiere, Christelle C; Larcher, Lise L; Kim, Rathana R; Clappier, Emmanuelle E; Sebert, Marie M; Mekinian, Arsène A; Fain, Olivier O; Caignard, Anne A; Espeli, Marion M; Balabanian, Karl K; Toubert, Antoine A; Fenaux, Pierre P; Ades, Lionel L; Dulphy, Nicolas N
Publication Date: 2023-02-03

Variant appearance in text: TET2: 5060_5061del; S1688fs
PubMed Link: 36737440
Variant Present in the following documents:
  • 41467_2023_36193_MOESM1_ESM.pdf
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: S1688Ffs*4
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
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: 5060_5061del; S1688Ffs*4
PubMed Link: 34413458
Variant Present in the following documents:
  • 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page