TET2 c.5603A>G ;(p.H1868R)

Variant ID: 4-106197270-A-G

NM_001127208.2(TET2):c.5603A>G;(p.H1868R)

This variant was identified in 5 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: H1868R
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: H1868R
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Clonal dynamics of haematopoiesis across the human lifespan.

Nature
Mitchell, Emily E; Spencer Chapman, Michael M; Williams, Nicholas N; Dawson, Kevin J KJ; Mende, Nicole N; Calderbank, Emily F EF; Jung, Hyunchul H; Mitchell, Thomas T; Coorens, Tim H H THH; Spencer, David H DH; Machado, Heather H; Lee-Six, Henry H; Davies, Megan M; Hayler, Daniel D; Fabre, Margarete A MA; Mahbubani, Krishnaa K; Abascal, Federico F; Cagan, Alex A; Vassiliou, George S GS; Baxter, Joanna J; Martincorena, Inigo I; Stratton, Michael R MR; Kent, David G DG; Chatterjee, Krishna K; Parsy, Kourosh Saeb KS; Green, Anthony R AR; Nangalia, Jyoti J; Laurenti, Elisa E; Campbell, Peter J PJ
Publication Date: 2022-06

Variant appearance in text: TET2: 5603A>G; H1868R
PubMed Link: 35650442
Variant Present in the following documents:
  • 41586_2022_4786_MOESM9_ESM.xlsx, sheet 1
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: H1868R
PubMed Link: 33298453
Variant Present in the following documents:
  • abe3722_Table_S6.xlsx, sheet 1
  • abe3722_Table_S3.xlsx, sheet 4
  • abe3722_Table_S4.xlsx, sheet 6
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: 5603A>G; His1868Arg
PubMed Link: 31187595
Variant Present in the following documents:
View BVdb publication page