TET2 c.3581C>G ;(p.P1194R)

Variant ID: 4-106164071-C-G

NM_001127208.2(TET2):c.3581C>G;(p.P1194R)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


CNL and aCML should be considered as single entity based on molecular profiles and outcomes.

Blood Advances
Carreño-Tarragona, Gonzalo G; Alvarez-Larran, Alberto A; Harrison, Claire N CN; Martínez-Ávila, José Carlos JC; Hernandez-Boluda, Juan Carlos JC; Ferrer-Marin, Francisca F; Radia, Deepti H DH; Mora Casterá, Elvira E; Francis, Sebastian S; González-Martínez, Teresa T; Goddard, Kathryn K; Perez-Encinas, Manuel M; Narayanan, Srinivasan S; Raya, Jose Maria JM; Singh, Vikram V; Toth, Peter P; Gutiérrez, Xabier X; Amat Martinez, Paula P; McIlwaine, Louisa L; Alobaidi, Magda M; Mayani, Karan K; McGregor, Andrew A; Stuckey, Ruth R; Psaila, Bethan B; Segura, Adrian A; Alvares, Caroline L CL; Davidson, Kerri K; Osorio, Santiago S; Cutting, Robert R; Sweeney, Caroline P CP; Rufian, Laura L; Moreno, Laura L; Cuenca, Isabel I; Smith, Jeffrey J; Morales, María Luz ML; Gil-Manso, Rodrigo R; Koutsavlis, Ioannis I; Wang, Lihui L; Mead, Adam J AJ; Rozman, Maria M; Martínez-López, Joaquin J; Ayala, Rosa R; Cross, Nicholas Cp NC
Publication Date: 2022-11-14

Variant appearance in text: TET2: 3581C>G; P1194R
PubMed Link: 36375042
Variant Present in the following documents:
  • BLOODA_ADV-2022-008204-mmc1.pdf
View BVdb publication page



Clonal hematopoiesis of indeterminate potential and risk of death from COVID-19.

Blood
Miller, Peter G PG; Fell, Geoffrey G GG; Foy, Brody H BH; Scherer, Allison K AK; Gibson, Christopher J CJ; Sperling, Adam S AS; Burugula, Bala B BB; Nakao, Tetsushi T; Uddin, Md M MM; Warren, Hailey H; Bry, Lynn L; Pozdnyakova, Olga O; Frigault, Matthew J MJ; Bick, Alex G AG; Neuberg, Donna D; Higgins, John M JM; Mansour, Michael K MK; Natarajan, Pradeep P; Kim, Annette S AS; Kitzman, Jacob O JO; Ebert, Benjamin L BL
Publication Date: 2022-11-03

Variant appearance in text: TET2: P1194R
PubMed Link: 36096050
Variant Present in the following documents:
  • mmc2.xlsx, sheet 7
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: P1194R
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: P1194R
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM11_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM5_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive analysis of genetic factors predicting overall survival in Myelodysplastic syndromes.

Scientific Reports
Maurya, Nehakumari N; Mohanty, Purvi P; Dhangar, Somprakash S; Panchal, Purvi P; Jijina, Farah F; Mathan, S Leo Prince SLP; Shanmukhaiah, Chandrakala C; Madkaikar, Manisha M; Vundinti, Babu Rao BR
Publication Date: 2022-04-08

Variant appearance in text: TET2: 3581C>G; Pro1194Arg
PubMed Link: 35396491
Variant Present in the following documents:
  • 41598_2022_9864_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Acquired somatic variants in inherited myeloid malignancies.

Leukemia
Armes, Hannah H; Rio-Machin, Ana A; Krizsán, Szilvia S; Bödör, Csaba C; Kaya, Fadimana F; Bewicke-Copley, Findlay F; Alnajar, Jenna J; Walne, Amanda A; Péterffy, Borbála B; Tummala, Hemanth H; Rouault-Pierre, Kevin K; Dokal, Inderjeet I; Vulliamy, Tom T; Fitzgibbon, Jude J
Publication Date: 2022-05

Variant appearance in text: TET2: P1194R
PubMed Link: 35140362
Variant Present in the following documents:
  • 41375_2022_1515_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Association of clonal hematopoiesis with chronic obstructive pulmonary disease.

Blood
Miller, Peter G PG; Qiao, Dandi D; Rojas-Quintero, Joselyn J; Honigberg, Michael C MC; Sperling, Adam S AS; Gibson, Christopher J CJ; Bick, Alexander G AG; Niroula, Abhishek A; McConkey, Marie E ME; Sandoval, Brittany B; Miller, Brian C BC; Shi, Weiwei W; Viswanathan, Kaushik K; Leventhal, Matthew M; Werner, Lillian L; Moll, Matthew M; Cade, Brian E BE; Barr, R Graham RG; Correa, Adolfo A; Cupples, L Adrienne LA; Gharib, Sina A SA; Jain, Deepti D; Gogarten, Stephanie M SM; Lange, Leslie A LA; London, Stephanie J SJ; Manichaikul, Ani A; O'Connor, George T GT; Oelsner, Elizabeth C EC; Redline, Susan S; Rich, Stephen S SS; Rotter, Jerome I JI; Ramachandran, Vasan V; Yu, Bing B; Sholl, Lynette L; Neuberg, Donna D; Jaiswal, Siddhartha S; Levy, Bruce D BD; Owen, Caroline A CA; Natarajan, Pradeep P; Silverman, Edwin K EK; van Galen, Peter P; Tesfaigzi, Yohannes Y; Cho, Michael H MH; Ebert, Benjamin L BL; ,
Publication Date: 2022-01-20

Variant appearance in text: TET2: P1194R
PubMed Link: 34855941
Variant Present in the following documents:
  • 10.1182-2021013531_bloodbld2021013531-suppl1.pdf
  • bloodBLD2021013531-suppl1.pdf
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: P1194R
PubMed Link: 34413458
Variant Present in the following documents:
  • 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1
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: 3581C>G; Pro1194Arg
PubMed Link: 31187595
Variant Present in the following documents:
View BVdb publication page



Frequent structural variations involving programmed death ligands in Epstein-Barr virus-associated lymphomas.

Leukemia
Kataoka, Keisuke K; Miyoshi, Hiroaki H; Sakata, Seiji S; Dobashi, Akito A; Couronné, Lucile L; Kogure, Yasunori Y; Sato, Yasuharu Y; Nishida, Kenji K; Gion, Yuka Y; Shiraishi, Yuichi Y; Tanaka, Hiroko H; Chiba, Kenichi K; Watatani, Yosaku Y; Kakiuchi, Nobuyuki N; Shiozawa, Yusuke Y; Yoshizato, Tetsuichi T; Yoshida, Kenichi K; Makishima, Hideki H; Sanada, Masashi M; Onozawa, Masahiro M; Teshima, Takanori T; Yoshiki, Yumiko Y; Ishida, Tadao T; Suzuki, Kenshi K; Shimada, Kazuyuki K; Tomita, Akihiro A; Kato, Motohiro M; Ota, Yasunori Y; Izutsu, Koji K; Demachi-Okamura, Ayako A; Akatsuka, Yoshiki Y; Miyano, Satoru S; Yoshino, Tadashi T; Gaulard, Philippe P; Hermine, Olivier O; Takeuchi, Kengo K; Ohshima, Koichi K; Ogawa, Seishi S
Publication Date: 2019-07

Variant appearance in text: TET2: P1194R
PubMed Link: 30683910
Variant Present in the following documents:
  • 41375_2019_380_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: TET2: 3581C>G; Pro1194Arg
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s5.xlsx, sheet 2
View BVdb publication page