DNMT3A c.1403A>G ;(p.K468R)

Variant ID: 2-25469055-T-C

NM_022552.4(DNMT3A):c.1403A>G;(p.K468R)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Somatic genetic alterations predict haematological progression in GATA2 deficiency.

Haematologica
Largeaud, Laetitia L; Collin, Matthew M; Monselet, Nils N; Vergez, Francois F; Fregona, Vincent V; Larcher, Lise L; Hirsch, Pierre P; Duployez, Nicolas N; Bidet, Audrey A; Luquet, Isabelle I; Bustamante, Jacinta J; Dufrechou, Stephanie S; Prade, Nais N; Nolla, Marie M; Hamelle, Camille C; Tavitian, Suzanne S; Habib, Christophe C; Meynier, Mateo M; Bellanne-Chantelot, Christine C; Donadieu, Jean J; De Fontbrune, Flore Sicre FS; Fieschi, Claire C; Ferster, Alina A; Delhommeau, Francois F; Delabesse, Eric E; Pasquet, Marlene M
Publication Date: 2023-02-02

Variant appearance in text: DNMT3A: 1403A>G; Lys468Arg
PubMed Link: 36727400
Variant Present in the following documents:
  • 2022_282250_LARGEAUD_TABS4_SUPPL.xlsx, sheet 1
View BVdb publication page



Clinical, Mutational, and Transcriptomic Characteristics in Elderly Korean Individuals With Clonal Hematopoiesis Driver Mutations.

Annals Of Laboratory Medicine
Moon, Inki I; Kong, Min Gyu MG; Ji, Young Sok YS; Kim, Se Hyung SH; Park, Seong Kyu SK; Suh, Jon J; Jang, Mi-Ae MA
Publication Date: 2023-03-01

Variant appearance in text: DNMT3A: 1403A>G; Lys468Arg
PubMed Link: 36281508
Variant Present in the following documents:
  • alm-43-2-145-supple2.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: DNMT3A: K468R
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: DNMT3A: K468R
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Focal disruption of DNA methylation dynamics at enhancers in IDH-mutant AML cells.

Leukemia
Wilson, Elisabeth R ER; Helton, Nichole M NM; Heath, Sharon E SE; Fulton, Robert S RS; Payton, Jacqueline E JE; Welch, John S JS; Walter, Matthew J MJ; Westervelt, Peter P; DiPersio, John F JF; Link, Daniel C DC; Miller, Christopher A CA; Ley, Timothy J TJ; Spencer, David H DH
Publication Date: 2022-04

Variant appearance in text: DNMT3A: K468R
PubMed Link: 34873300
Variant Present in the following documents:
  • 41375_2021_1476_MOESM8_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: DNMT3A: K468R
PubMed Link: 34855941
Variant Present in the following documents:
  • 10.1182-2021013531_bloodbld2021013531-suppl1.pdf
  • bloodBLD2021013531-suppl1.pdf
View BVdb publication page



Clonal hematopoiesis associated with epigenetic aging and clinical outcomes.

Aging Cell
Nachun, Daniel D; Lu, Ake T AT; Bick, Alexander G AG; Natarajan, Pradeep P; Weinstock, Joshua J; Szeto, Mindy D MD; Kathiresan, Sekar S; Abecasis, Goncalo G; Taylor, Kent D KD; Guo, Xiuqing X; Tracy, Russ R; Durda, Peter P; Liu, Yongmei Y; Johnson, Craig C; Rich, Stephen S SS; Van Den Berg, David D; Laurie, Cecilia C; Blackwell, Tom T; Papanicolaou, George J GJ; Correa, Adolfo A; Raffield, Laura M LM; Johnson, Andrew D AD; Murabito, Joanne J; Manson, JoAnn E JE; Desai, Pinkal P; Kooperberg, Charles C; Assimes, Themistocles L TL; Levy, Daniel D; Rotter, Jerome I JI; Reiner, Alex P AP; Whitsel, Eric A EA; Wilson, James G JG; Horvath, Steve S; Jaiswal, Siddhartha S; ,
Publication Date: 2021-06

Variant appearance in text: DNMT3A: K468R
PubMed Link: 34050697
Variant Present in the following documents:
  • ACEL-20-e13366-s001.xlsx, sheet 1
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: DNMT3A: K468R
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



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: K468R
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s002.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: DNMT3A: K468R
PubMed Link: 33057201
Variant Present in the following documents:
  • NIHMS1609346-supplement-1609346_SuppTables.xlsx, sheet 4
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: DNMT3A: K468R
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Prevalence and dynamics of clonal hematopoiesis caused by leukemia-associated mutations in elderly individuals without hematologic disorders.

Leukemia
Midic, Danica D; Rinke, Jenny J; Perner, Florian F; Müller, Violetta V; Hinze, Anna A; Pester, Frank F; Landschulze, Jürgen J; Ernst, Jana J; Gruhn, Bernd B; Matziolis, Georg G; Heidel, Florian H FH; Hochhaus, Andreas A; Ernst, Thomas T
Publication Date: 2020-08

Variant appearance in text: DNMT3A: 1403A>G; K468R
PubMed Link: 32457355
Variant Present in the following documents:
  • Main text
  • 41375_2020_Article_869.pdf
View BVdb publication page



Multi-omics profiling reveals a distinctive epigenome signature for high-risk acute promyelocytic leukemia.

Oncotarget
Singh, Abhishek A AA; Petraglia, Francesca F; Nebbioso, Angela A; Yi, Guoqiang G; Conte, Mariarosaria M; Valente, Sergio S; Mandoli, Amit A; Scisciola, Lucia L; Lindeboom, Rik R; Kerstens, Hinri H; Janssen-Megens, Eva M EM; Pourfarzad, Farzin F; Habibi, Ehsan E; Berentsen, Kim K; Kim, Bowon B; Logie, Colin C; Heath, Simon S; Wierenga, Albertus T J ATJ; Clarke, Laura L; Flicek, Paul P; Jansen, Joop H JH; Kuijpers, Taco T; Yaspo, Marie Laure ML; Valle, Veronique Della VD; Bernard, Olivier O; Gut, Ivo I; Vellenga, Edo E; Stunnenberg, Hendrik G HG; Mai, Antonello A; Altucci, Lucia L; Martens, Joost H A JHA
Publication Date: 2018-05-22

Variant appearance in text: DNMT3A: K468R
PubMed Link: 29876014
Variant Present in the following documents:
  • oncotarget-09-25647-s002.xlsx, sheet 1
View BVdb publication page



Frequent reconstitution of IDH2(R140Q) mutant clonal multilineage hematopoiesis following chemotherapy for acute myeloid leukemia.

Leukemia
Wiseman, D H DH; Williams, E L EL; Wilks, D P DP; Sun Leong, H H; Somerville, T D D TD; Dennis, M W MW; Struys, E A EA; Bakkali, A A; Salomons, G S GS; Somervaille, T C P TC
Publication Date: 2016-09

Variant appearance in text: DNMT3A: 1403A>G; K468R
PubMed Link: 27118404
Variant Present in the following documents:
  • NIHMS68275-supplement-Supplemental_information.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: DNMT3A: K468R
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



Feature-based classification of amino acid substitutions outside conserved functional protein domains.

Thescientificworldjournal
Gemovic, Branislava B; Perovic, Vladimir V; Glisic, Sanja S; Veljkovic, Nevena N
Publication Date: 2013

Variant appearance in text: DNMT3A: K468R
PubMed Link: 24348198
Variant Present in the following documents:
  • 948617.f1.pdf
View BVdb publication page