TET2 c.694C>T ;(p.Q232*)

Variant ID: 4-106155793-C-T

NM_001127208.2(TET2):c.694C>T;(p.Q232*)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Genetically determining individualized clinical reference ranges for the biomarker tryptase can limit unnecessary procedures and unmask myeloid neoplasms.

Blood Advances
Chovanec, Jack J; Tunc, Ilker I; Hughes, Jason J; Halstead, Joseph J; Mateja, Allyson A; Liu, Yihui Y; O'Connell, Michael M; Kim, Jiwon J; Park, Young Hwan YH; Wang, Qinlu Q; Le, Quang Trong QT; Pirooznia, Mehdi M; Trivedi, Neil N; Bai, Yun Y; Yin, Yuzhi Y; Hsu, Amy P AP; McElwee, Joshua J JJ; Lassiter, Sheryce S; Nelson, Celeste C; Bandoh, Judy J; DiMaggio, Thomas T; Selb, Julij J; Rijavec, Matija M; Carter, Melody C MC; Komarow, Hirsh H; Sabato, Vito V; Steinberg, Joshua A JA; Hafer, Kurt M KM; Feuille, Elizabeth E; Hourigan, Christopher S CS; Lack, Justin J; Khoury, Paneez P; Maric, Irina I; Zanotti, Roberta R; Bonadonna, Patrizia P; Schwartz, Lawrence B LB; Milner, Joshua D JD; Glover, Sarah S; Ebo, Didier G DG; Korosec, Peter P; Caughey, George G; Brittain, Erica E; Busby, Ben B; Metcalfe, Dean D DD; Lyons, Jonathan J JJ
Publication Date: 2022-09-28

Variant appearance in text: TET2: Q232X
PubMed Link: 36170795
Variant Present in the following documents:
  • BLOODA_ADV-2022-007936-mmc1.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: Q232*
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: Q232X
PubMed Link: 35650444
Variant Present in the following documents:
  • 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



Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.

Human Genomics
Avramović, Vladimir V; Frederiksen, Simona Denise SD; Brkić, Marjana M; Tarailo-Graovac, Maja M
Publication Date: 2021-12-14

Variant appearance in text: TET2: Q232*
PubMed Link: 34906245
Variant Present in the following documents:
  • 40246_2021_371_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.

Human Genomics
Avramović, Vladimir V; Frederiksen, Simona Denise SD; Brkić, Marjana M; Tarailo-Graovac, Maja M
Publication Date: 2021-12-14

Variant appearance in text: TET2: Q232*
PubMed Link: 34906245
Variant Present in the following documents:
  • 40246_2021_371_MOESM1_ESM.xlsx, sheet 5
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: Q232*
PubMed Link: 34855941
Variant Present in the following documents:
  • bloodBLD2021013531-suppl1.pdf
  • 10.1182-2021013531_bloodbld2021013531-suppl1.pdf
View BVdb publication page



Single-Cell Analysis of the Multicellular Ecosystem in Viral Carcinogenesis by HTLV-1.

Blood Cancer Discovery
Koya, Junji J; Saito, Yuki Y; Kameda, Takuro T; Kogure, Yasunori Y; Yuasa, Mitsuhiro M; Nagasaki, Joji J; McClure, Marni B MB; Shingaki, Sumito S; Tabata, Mariko M; Tahira, Yuki Y; Akizuki, Keiichi K; Kamiunten, Ayako A; Sekine, Masaaki M; Shide, Kotaro K; Kubuki, Yoko Y; Hidaka, Tomonori T; Kitanaka, Akira A; Nakano, Nobuaki N; Utsunomiya, Atae A; Togashi, Yosuke Y; Ogawa, Seishi S; Shimoda, Kazuya K; Kataoka, Keisuke K
Publication Date: 2021-09

Variant appearance in text: TET2: 694C>T; Q232*
PubMed Link: 34661162
Variant Present in the following documents:
  • bloodcandisc-2-450-s008.xlsx, sheet 1
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: Q232X
PubMed Link: 34413458
Variant Present in the following documents:
  • 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

Nature
Bick, Alexander G AG; Weinstock, Joshua S JS; Nandakumar, Satish K SK; Fulco, Charles P CP; Bao, Erik L EL; Zekavat, Seyedeh M SM; Szeto, Mindy D MD; Liao, Xiaotian X; Leventhal, Matthew J MJ; Nasser, Joseph J; Chang, Kyle K; Laurie, Cecelia C; Burugula, Bala Bharathi BB; Gibson, Christopher J CJ; Lin, Amy E AE; Taub, Margaret A MA; Aguet, Francois F; Ardlie, Kristin K; Mitchell, Braxton D BD; Barnes, Kathleen C KC; Moscati, Arden A; Fornage, Myriam M; Redline, Susan S; Psaty, Bruce M BM; Silverman, Edwin K EK; Weiss, Scott T ST; Palmer, Nicholette D ND; Vasan, Ramachandran S RS; Burchard, Esteban G EG; Kardia, Sharon L R SLR; He, Jiang J; Kaplan, Robert C RC; Smith, Nicholas L NL; Arnett, Donna K DK; Schwartz, David A DA; Correa, Adolfo A; de Andrade, Mariza M; Guo, Xiuqing X; Konkle, Barbara A BA; Custer, Brian B; Peralta, Juan M JM; Gui, Hongsheng H; Meyers, Deborah A DA; McGarvey, Stephen T ST; Chen, Ida Yii-Der IY; Shoemaker, M Benjamin MB; Peyser, Patricia A PA; Broome, Jai G JG; Gogarten, Stephanie M SM; Wang, Fei Fei FF; Wong, Quenna Q; Montasser, May E ME; Daya, Michelle M; Kenny, Eimear E EE; North, Kari E KE; Launer, Lenore J LJ; Cade, Brian E BE; Bis, Joshua C JC; Cho, Michael H MH; Lasky-Su, Jessica J; Bowden, Donald W DW; Cupples, L Adrienne LA; Mak, Angel C Y ACY; Becker, Lewis C LC; Smith, Jennifer A JA; Kelly, Tanika N TN; Aslibekyan, Stella S; Heckbert, Susan R SR; Tiwari, Hemant K HK; Yang, Ivana V IV; Heit, John A JA; Lubitz, Steven A SA; Johnsen, Jill M JM; Curran, Joanne E JE; Wenzel, Sally E SE; Weeks, Daniel E DE; Rao, Dabeeru C DC; Darbar, Dawood D; Moon, Jee-Young JY; Tracy, Russell P RP; Buth, Erin J EJ; Rafaels, Nicholas N; Loos, Ruth J F RJF; Durda, Peter P; Liu, Yongmei Y; Hou, Lifang L; Lee, Jiwon J; Kachroo, Priyadarshini P; Freedman, Barry I BI; Levy, Daniel D; Bielak, Lawrence F LF; Hixson, James E JE; Floyd, James S JS; Whitsel, Eric A EA; Ellinor, Patrick T PT; Irvin, Marguerite R MR; Fingerlin, Tasha E TE; Raffield, Laura M LM; Armasu, Sebastian M SM; Wheeler, Marsha M MM; Sabino, Ester C EC; Blangero, John J; Williams, L Keoki LK; Levy, Bruce D BD; Sheu, Wayne Huey-Herng WH; Roden, Dan M DM; Boerwinkle, Eric E; Manson, JoAnn E JE; Mathias, Rasika A RA; Desai, Pinkal P; Taylor, Kent D KD; Johnson, Andrew D AD; , ; Auer, Paul L PL; Kooperberg, Charles C; Laurie, Cathy C CC; Blackwell, Thomas W TW; Smith, Albert V AV; Zhao, Hongyu H; Lange, Ethan E; Lange, Leslie L; Rich, Stephen S SS; Rotter, Jerome I JI; Wilson, James G JG; Scheet, Paul P; Kitzman, Jacob O JO; Lander, Eric S ES; Engreitz, Jesse M JM; Ebert, Benjamin L BL; Reiner, Alexander P AP; Jaiswal, Siddhartha S; Abecasis, Gonçalo G; Sankaran, Vijay G VG; Kathiresan, Sekar S; Natarajan, Pradeep P
Publication Date: 2020-10

Variant appearance in text: TET2: Q232X
PubMed Link: 33057201
Variant Present in the following documents:
  • NIHMS1609346-supplement-1609346_SuppTables.xlsx, sheet 4
View BVdb publication page



Variegated RHOA mutations in adult T-cell leukemia/lymphoma.

Blood
Nagata, Yasunobu Y; Kontani, Kenji K; Enami, Terukazu T; Kataoka, Keisuke K; Ishii, Ryohei R; Totoki, Yasushi Y; Kataoka, Tatsuki R TR; Hirata, Masahiro M; Aoki, Kazuhiro K; Nakano, Kazumi K; Kitanaka, Akira A; Sakata-Yanagimoto, Mamiko M; Egami, Sachiko S; Shiraishi, Yuichi Y; Chiba, Kenichi K; Tanaka, Hiroko H; Shiozawa, Yusuke Y; Yoshizato, Tetsuichi T; Suzuki, Hiromichi H; Kon, Ayana A; Yoshida, Kenichi K; Sato, Yusuke Y; Sato-Otsubo, Aiko A; Sanada, Masashi M; Munakata, Wataru W; Nakamura, Hiromi H; Hama, Natsuko N; Miyano, Satoru S; Nureki, Osamu O; Shibata, Tatsuhiro T; Haga, Hironori H; Shimoda, Kazuya K; Katada, Toshiaki T; Chiba, Shigeru S; Watanabe, Toshiki T; Ogawa, Seishi S
Publication Date: 2016-02-04

Variant appearance in text: TET2: Gln232*
PubMed Link: 26574607
Variant Present in the following documents:
  • Main text
View BVdb publication page