TET2 c.3818G>A ;(p.C1273Y)

Variant ID: 4-106180790-G-A

NM_001127208.2(TET2):c.3818G>A;(p.C1273Y)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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: C1273Y
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: C1273Y
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



In utero origin of myelofibrosis presenting in adult monozygotic twins.

Nature Medicine
Sousos, Nikolaos N; Ní Leathlobhair, Máire M; Simoglou Karali, Christina C; Louka, Eleni E; Bienz, Nicola N; Royston, Daniel D; Clark, Sally-Ann SA; Hamblin, Angela A; Howard, Kieran K; Mathews, Vikram V; George, Biju B; Roy, Anindita A; Psaila, Bethan B; Wedge, David C DC; Mead, Adam J AJ
Publication Date: 2022-06

Variant appearance in text: TET2: 3818G>A; C1273Y
PubMed Link: 35637336
Variant Present in the following documents:
  • Main text
  • 41591_2022_1793_MOESM1_ESM.pdf
  • 41591_2022_Article_1793.pdf
View BVdb publication page



Clonal Hematopoiesis Before, During, and After Human Spaceflight.

Cell Reports
Mencia-Trinchant, Nuria N; MacKay, Matthew J MJ; Chin, Christopher C; Afshinnekoo, Ebrahim E; Foox, Jonathan J; Meydan, Cem C; Butler, Daniel D; Mozsary, Christopher C; Vernice, Nicholas A NA; Darby, Charlotte C; Schatz, Michael C MC; Bailey, Susan M SM; Melnick, Ari M AM; Guzman, Monica L ML; Bolton, Kelly K; Braunstein, Lior Z LZ; Garrett-Bakelman, Francine F; Levine, Ross L RL; Hassane, Duane C DC; Mason, Christopher E CE
Publication Date: 2020-12-08

Variant appearance in text: TET2: Cys1273Tyr
PubMed Link: 33242405
Variant Present in the following documents:
  • Main text
  • nihms-1827326.pdf
View BVdb publication page



[Rosai-Dorfman disease: a clinicopathologic analysis and whole exome sequencing in 23 cases].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
Fu, W J WJ; Du, J J; Lu, J J; Wang, L Z LZ; Yang, J M JM; He, M X MX; Hu, X X XX
Publication Date: 2019-08-14

Variant appearance in text: TET2: 3818G>A; C1273Y
PubMed Link: 31495132
Variant Present in the following documents:
  • Main text
  • cjh-40-08-656.pdf
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: 3818G>A; Cys1273Tyr
PubMed Link: 31187595
Variant Present in the following documents:
View BVdb publication page



Bone marrow fibrosis in myelodysplastic syndromes: a prospective evaluation including mutational analysis.

Oncotarget
Ramos, Fernando F; Robledo, Cristina C; Izquierdo-García, Francisco Miguel FM; Suárez-Vilela, Dimas D; Benito, Rocío R; Fuertes, Marta M; Insunza, Andrés A; Barragán, Eva E; Del Rey, Mónica M; García-Ruiz de Morales, José María JM; Tormo, Mar M; Salido, Eduardo E; Zamora, Lurdes L; Pedro, Carmen C; Sánchez-Del-Real, Javier J; Díez-Campelo, María M; Del Cañizo, Consuelo C; Sanz, Guillermo F GF; Hernández-Rivas, Jesús María JM; ,
Publication Date: 2016-05-24

Variant appearance in text: TET2: Cys1273Tyr
PubMed Link: 27127180
Variant Present in the following documents:
  • oncotarget-07-30492-s002.pdf
View BVdb publication page



MPN patients harbor recurrent truncating mutations in transcription factor NF-E2.

The Journal Of Experimental Medicine
Jutzi, Jonas S JS; Bogeska, Ruzhica R; Nikoloski, Gorica G; Schmid, Corina A CA; Seeger, Thalia S TS; Stegelmann, Frank F; Schwemmers, Sven S; Gründer, Albert A; Peeken, Jan C JC; Gothwal, Monika M; Wehrle, Julius J; Aumann, Konrad K; Hamdi, Kamar K; Dierks, Christine C; Kamar Wang, Wei W; Döhner, Konstanze K; Jansen, Joop H JH; Pahl, Heike L HL
Publication Date: 2013-05-06

Variant appearance in text: TET2: 3818G>A; C1273Y
PubMed Link: 23589569
Variant Present in the following documents:
  • Main text
  • JEM_20120521.pdf
View BVdb publication page