DNMT3A c.1681G>T ;(p.E561*)

Variant ID: 2-25467194-C-A

NM_022552.4(DNMT3A):c.1681G>T;(p.E561*)

This variant was identified in 6 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: DNMT3A: E561*
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
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: DNMT3A: E561*
PubMed Link: 34855941
Variant Present in the following documents:
  • 10.1182-2021013531_bloodbld2021013531-suppl1.pdf
  • bloodBLD2021013531-suppl1.pdf
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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: DNMT3A: E561*
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s004.xlsx, sheet 1
View BVdb publication page



Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.

European Journal Of Human Genetics : Ejhg
Tenorio, Jair J; Alarcón, Pablo P; Arias, Pedro P; Dapía, Irene I; García-Miñaur, Sixto S; Palomares Bralo, María M; Campistol, Jaume J; Climent, Salvador S; Valenzuela, Irene I; Ramos, Sergio S; Monseny, Antonio Martínez AM; Grondona, Fermina López FL; Botet, Javier J; Serrano, Mercedes M; Solís, Mario M; Santos-Simarro, Fernando F; Álvarez, Sara S; Teixidó-Tura, Gisela G; Fernández Jaén, Alberto A; Gordo, Gema G; Bardón Rivera, María Belén MB; Nevado, Julián J; Hernández, Alicia A; Cigudosa, Juan C JC; Ruiz-Pérez, Víctor L VL; Tizzano, Eduardo F EF; , ; Lapunzina, Pablo P
Publication Date: 2020-04

Variant appearance in text: DNMT3A: 1681G>T; Glu561*
PubMed Link: 31685998
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications
Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML
Publication Date: 2017-02-10

Variant appearance in text: DNMT3A: E561X
PubMed Link: 28186126
Variant Present in the following documents:
  • ncomms14262-s5.xlsx, sheet 2
View BVdb publication page



Rare mutations in DNMT3A in myeloproliferative neoplasms and myelodysplastic syndromes.

Blood Cancer Journal
Brecqueville, M M; Cervera, N N; Gelsi-Boyer, V V; Murati, A A; Adélaïde, J J; Chaffanet, M M; Rey, J J; Vey, N N; Mozziconacci, M J MJ; Birnbaum, D D
Publication Date: 2011-05

Variant appearance in text: DNMT3A: 1681G>T
PubMed Link: 22829153
Variant Present in the following documents:
  • Main text
View BVdb publication page