DNMT3A c.2194_2196del ;(p.F732del)

Variant ID: 2-25463297-CAAA-C

NM_022552.4(DNMT3A):c.2194_2196del;(p.F732del)

This variant was identified in 7 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: F732del
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: F732del
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: DNMT3A: 2194_2196del; F732del
PubMed Link: 34413458
Variant Present in the following documents:
  • 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.

Nature Communications
Kennedy, Alyssa L AL; Myers, Kasiani C KC; Bowman, James J; Gibson, Christopher J CJ; Camarda, Nicholas D ND; Furutani, Elissa E; Muscato, Gwen M GM; Klein, Robert H RH; Ballotti, Kaitlyn K; Liu, Shanshan S; Harris, Chad E CE; Galvin, Ashley A; Malsch, Maggie M; Dale, David D; Gansner, John M JM; Nakano, Taizo A TA; Bertuch, Alison A; Vlachos, Adrianna A; Lipton, Jeffrey M JM; Castillo, Paul P; Connelly, James J; Churpek, Jane J; Edwards, John R JR; Hijiya, Nobuko N; Ho, Richard H RH; Hofmann, Inga I; Huang, James N JN; Keel, Siobán S; Lamble, Adam A; Lau, Bonnie W BW; Norkin, Maxim M; Stieglitz, Elliot E; Stock, Wendy W; Walkovich, Kelly K; Boettcher, Steffen S; Brendel, Christian C; Fleming, Mark D MD; Davies, Stella M SM; Weller, Edie A EA; Bahl, Christopher C; Carter, Scott L SL; Shimamura, Akiko A; Lindsley, R Coleman RC
Publication Date: 2021-02-26

Variant appearance in text: DNMT3A: 2194_2196del
PubMed Link: 33637765
Variant Present in the following documents:
  • 41467_2021_21588_MOESM1_ESM.pdf
View BVdb publication page



Proteomic and genomic integration identifies kinase and differentiation determinants of kinase inhibitor sensitivity in leukemia cells.

Leukemia
Casado, Pedro P; Wilkes, Edmund H EH; Miraki-Moud, Farideh F; Hadi, Marym Mohammad MM; Rio-Machin, Ana A; Rajeeve, Vinothini V; Pike, Rebecca R; Iqbal, Sameena S; Marfa, Santiago S; Lea, Nicholas N; Best, Steven S; Gribben, John J; Fitzgibbon, Jude J; Cutillas, Pedro R PR
Publication Date: 2018-08

Variant appearance in text: DNMT3A: Phe732del
PubMed Link: 29626197
Variant Present in the following documents:
  • 41375_2018_32_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Epigenetically induced ectopic expression of UNCX impairs the proliferation and differentiation of myeloid cells.

Haematologica
Daniele, Giulia G; Simonetti, Giorgia G; Fusilli, Caterina C; Iacobucci, Ilaria I; Lonoce, Angelo A; Palazzo, Antonio A; Lomiento, Mariana M; Mammoli, Fabiana F; Marsano, Renè Massimiliano RM; Marasco, Elena E; Mantovani, Vilma V; Quentmeier, Hilmar H; Drexler, Hans G HG; Ding, Jie J; Palumbo, Orazio O; Carella, Massimo M; Nadarajah, Niroshan N; Perricone, Margherita M; Ottaviani, Emanuela E; Baldazzi, Carmen C; Testoni, Nicoletta N; Papayannidis, Cristina C; Ferrari, Sergio S; Mazza, Tommaso T; Martinelli, Giovanni G; Storlazzi, Clelia Tiziana CT
Publication Date: 2017-07

Variant appearance in text: DNMT3A: F732del
PubMed Link: 28411256
Variant Present in the following documents:
  • 1021204.pdf
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: DNMT3A: Phe732del
PubMed Link: 27127180
Variant Present in the following documents:
  • oncotarget-07-30492-s002.pdf
View BVdb publication page