TET2 c.4115C>T ;(p.T1372I)

Variant ID: 4-106190837-C-T

NM_001127208.2(TET2):c.4115C>T;(p.T1372I)

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: T1372I
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Outcomes and molecular profile of oligomonocytic CMML support its consideration as the first stage in the CMML continuum.

Blood Advances
Calvo, Xavier X; Roman-Bravo, David D; Garcia-Gisbert, Nieves N; Rodriguez-Sevilla, Juan Jose JJ; Garcia-Avila, Sara S; Florensa, Lourdes L; Gibert, Joan J; Fernández-Rodríguez, Concepción C; Salido, Marta M; Puiggros, Anna A; Espinet, Blanca B; Colomo, Luis L; Bellosillo, Beatriz B; Ferrer, Ana A; Arenillas, Leonor L
Publication Date: 2022-07-12

Variant appearance in text: TET2: 4115C>T; Thr1372Ile
PubMed Link: 35709473
Variant Present in the following documents:
  • advancesADV2022007359-suppl1.pdf
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: T1372I
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM5_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM11_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM9_ESM.xlsx, sheet 1
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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: T1372I
PubMed Link: 34413458
Variant Present in the following documents:
  • 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Roles of HIF and 2-Oxoglutarate-Dependent Dioxygenases in Controlling Gene Expression in Hypoxia.

Cancers
Frost, Julianty J; Frost, Mark M; Batie, Michael M; Jiang, Hao H; Rocha, Sonia S
Publication Date: 2021-01-19

Variant appearance in text: TET2: T1372I
PubMed Link: 33477877
Variant Present in the following documents:
  • cancers-13-00350-s001.pdf
View BVdb publication page



Diagnosis and prognosis are supported by integrated assessment of next-generation sequencing in chronic myeloid malignancies. A real-life study.

Haematologica
Vantyghem, Sophie S; Peterlin, Pierre P; Thépot, Sylvain S; Ménard, Audrey A; Dubruille, Viviane V; Debord, Camille C; Guillaume, Thierry T; Garnier, Alice A; Le Bourgeois, Amandine A; Wuilleme, Soraya S; Godon, Catherine C; Theisen, Olivier O; Eveillard, Marion M; Delaunay, Jacques J; Maisonneuve, Hervé H; Morineau, Nadine N; Villemagne, Bruno B; Vigouroux, Stéphane S; Subiger, François F; Lestang, Elsa E; Loirat, Marion M; Parcelier, Anne A; Godmer, Pascal P; Mercier, Mélanie M; Trebouet, Adrien A; Luque Paz, Damien D; Le Calloch, Ronan R; Le Clech, Lenaig L; Bossard, Céline C; Moreau, Anne A; Ugo, Valérie V; Hunault, Mathilde M; Moreau, Philippe P; Le Gouill, Steven S; Chevallier, Patrice P; Béné, Marie C MC; Le Bris, Yannick Y
Publication Date: 2021-03-01

Variant appearance in text: TET2: 4115C>T; Thr1372Ile
PubMed Link: 32241844
Variant Present in the following documents:
  • 2019_242677_VANTYGHEM_SUPPL.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: 4115C>T; Thr1372Ile
PubMed Link: 31187595
Variant Present in the following documents:
View BVdb publication page



Mutations along a TET2 active site scaffold stall oxidation at 5-hydroxymethylcytosine.

Nature Chemical Biology
Liu, Monica Yun MY; Torabifard, Hedieh H; Crawford, Daniel J DJ; DeNizio, Jamie E JE; Cao, Xing-Jun XJ; Garcia, Benjamin A BA; Cisneros, G Andrés GA; Kohli, Rahul M RM
Publication Date: 2017-02

Variant appearance in text: TET2: T1372I
PubMed Link: 27918559
Variant Present in the following documents:
  • Main text
View BVdb publication page