DNMT3A c.1904G>C ;(p.R635P)

Variant ID: 2-25466799-C-G

NM_022552.4(DNMT3A):c.1904G>C;(p.R635P)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Dynamics of age- versus therapy-related clonal hematopoiesis in long-term survivors of pediatric cancer.

Cancer Discovery
Hagiwara, Kohei K; Natarajan, Sivaraman S; Wang, Zhaoming Z; Zubair, Haseeb H; Mulder, Heather L HL; Dong, Li L; Plyler, Emily M EM; Thimmaiah, Padma P; Ma, Xiaotu X; Ness, Kirsten K KK; Li, Zhenghong Z; Mulrooney, Daniel A DA; Wilson, Carmen L CL; Yasui, Yutaka Y; Hudson, Melissa M MM; Easton, John J; Robison, Leslie L LL; Zhang, Jinghui J
Publication Date: 2023-02-08

Variant appearance in text: DNMT3A: R635P
PubMed Link: 36751942
Variant Present in the following documents:
  • cd-22-0956_tables_s2_s7_s8_s9_suppst1.xlsx, sheet 1
  • cd-22-0956_tables_s2_s7_s8_s9_suppst1.xlsx, sheet 4
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An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology
Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y
Publication Date: 2022

Variant appearance in text: DNMT3A: 1904G>C; R635P
PubMed Link: 36505399
Variant Present in the following documents:
  • Table_2.xlsx, sheet 3
  • Table_2.xlsx, sheet 2
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: R635P
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
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 2
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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: R635P
PubMed Link: 34855941
Variant Present in the following documents:
  • 10.1182-2021013531_bloodbld2021013531-suppl1.pdf
  • bloodBLD2021013531-suppl1.pdf
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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: R635P
PubMed Link: 34050697
Variant Present in the following documents:
  • ACEL-20-e13366-s001.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Cancer Gene Therapy
Denisova, Evgeniya E; Westphal, Dana D; Surowy, Harald M HM; Meier, Friedegund F; Hutter, Barbara B; Reifenberger, Julia J; Rütten, Arno A; Schulz, Alexander A; Sergon, Mildred M; Ziemer, Mirjana M; Brors, Benedikt B; Betz, Regina C RC; Redler, Silke S
Publication Date: 2022-06

Variant appearance in text: DNMT3A: 1904G>C; R635P
PubMed Link: 34045664
Variant Present in the following documents:
  • 41417_2021_347_MOESM4_ESM.xls, sheet 7
View BVdb publication page



Digital Display Precision Predictor: the prototype of a global biomarker model to guide treatments with targeted therapy and predict progression-free survival.

Npj Precision Oncology
Lazar, Vladimir V; Magidi, Shai S; Girard, Nicolas N; Savignoni, Alexia A; Martini, Jean-François JF; Massimini, Giorgio G; Bresson, Catherine C; Berger, Raanan R; Onn, Amir A; Raynaud, Jacques J; Wunder, Fanny F; Berindan-Neagoe, Ioana I; Sekacheva, Marina M; Braña, Irene I; Tabernero, Josep J; Felip, Enriqueta E; Porgador, Angel A; Kleinman, Claudia C; Batist, Gerald G; Solomon, Benjamin B; Tsimberidou, Apostolia Maria AM; Soria, Jean-Charles JC; Rubin, Eitan E; Kurzrock, Razelle R; Schilsky, Richard L RL
Publication Date: 2021-04-28

Variant appearance in text: DNMT3A: R635P
PubMed Link: 33911192
Variant Present in the following documents:
  • Main text
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Genomic and evolutionary portraits of disease relapse in acute myeloid leukemia.

Leukemia
Rapaport, Franck F; Neelamraju, Yaseswini Y; Baslan, Timour T; Hassane, Duane D; Gruszczynska, Agata A; Robert de Massy, Marc M; Farnoud, Noushin N; Haddox, Samuel S; Lee, Tak T; Medina-Martinez, Juan J; Sheridan, Caroline C; Thurmond, Alexis A; Becker, Michael M; Bekiranov, Stefan S; Carroll, Martin M; Moses Murdock, Heardly H; Valk, Peter J M PJM; Bullinger, Lars L; D'Andrea, Richard R; Lowe, Scott W SW; Neuberg, Donna D; Levine, Ross L RL; Melnick, Ari A; Garrett-Bakelman, Francine E FE
Publication Date: 2021-09

Variant appearance in text: DNMT3A: Arg635Pro
PubMed Link: 33580203
Variant Present in the following documents:
  • 41375_2021_1153_MOESM4_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: DNMT3A: R635P
PubMed Link: 33057201
Variant Present in the following documents:
  • NIHMS1609346-supplement-1609346_SuppTables.xlsx, sheet 4
View BVdb publication page



Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.

Nature Medicine
Durham, Benjamin H BH; Lopez Rodrigo, Estibaliz E; Picarsic, Jennifer J; Abramson, David D; Rotemberg, Veronica V; De Munck, Steven S; Pannecoucke, Erwin E; Lu, Sydney X SX; Pastore, Alessandro A; Yoshimi, Akihide A; Mandelker, Diana D; Ceyhan-Birsoy, Ozge O; Ulaner, Gary A GA; Walsh, Michael M; Yabe, Mariko M; Petrova-Drus, Kseniya K; Arcila, Maria E ME; Ladanyi, Marc M; Solit, David B DB; Berger, Michael F MF; Hyman, David M DM; Lacouture, Mario E ME; Erickson, Caroline C; Saganty, Ruth R; Ki, Michelle M; Dunkel, Ira J IJ; Santa-María López, Vicente V; Mora, Jaume J; Haroche, Julien J; Emile, Jean-Francois JF; Decaux, Olivier O; Geissmann, Frederic F; Savvides, Savvas N SN; Drilon, Alexander A; Diamond, Eli L EL; Abdel-Wahab, Omar O
Publication Date: 2019-12

Variant appearance in text: DNMT3A: 1904G>C; R635P
PubMed Link: 31768065
Variant Present in the following documents:
  • NIHMS1541330-supplement-1.pdf
View BVdb publication page



The Landscape of KMT2A-PTD AML: Concurrent Mutations, Gene Expression Signatures, and Clinical Outcome.

Hemasphere
Hinai, Adil S A Al ASAA; Pratcorona, Marta M; Grob, Tim T; Kavelaars, François G FG; Bussaglia, Elena E; Sanders, Mathijs A MA; Nomdedeu, Josep J; Valk, Peter J M PJM
Publication Date: 2019-04

Variant appearance in text: DNMT3A: R635P
PubMed Link: 31723820
Variant Present in the following documents:
  • hs9-3-e181-s004.xlsx, sheet 1
View BVdb publication page



Clinical relevance of IDH1/2 mutant allele burden during follow-up in acute myeloid leukemia. A study by the French ALFA group.

Haematologica
Ferret, Yann Y; Boissel, Nicolas N; Helevaut, Nathalie N; Madic, Jordan J; Nibourel, Olivier O; Marceau-Renaut, Alice A; Bucci, Maxime M; Geffroy, Sandrine S; Celli-Lebras, Karine K; Castaigne, Sylvie S; Thomas, Xavier X; Terré, Christine C; Dombret, Hervé H; Preudhomme, Claude C; Renneville, Aline A
Publication Date: 2018-05

Variant appearance in text: DNMT3A: 1904G>C; R635P
PubMed Link: 29472349
Variant Present in the following documents:
  • 2017.183525.FERRET_SUPPL.pdf
View BVdb publication page



Distinct evolution and dynamics of epigenetic and genetic heterogeneity in acute myeloid leukemia.

Nature Medicine
Li, Sheng S; Garrett-Bakelman, Francine E FE; Chung, Stephen S SS; Sanders, Mathijs A MA; Hricik, Todd T; Rapaport, Franck F; Patel, Jay J; Dillon, Richard R; Vijay, Priyanka P; Brown, Anna L AL; Perl, Alexander E AE; Cannon, Joy J; Bullinger, Lars L; Luger, Selina S; Becker, Michael M; Lewis, Ian D ID; To, Luen Bik LB; Delwel, Ruud R; Löwenberg, Bob B; Döhner, Hartmut H; Döhner, Konstanze K; Guzman, Monica L ML; Hassane, Duane C DC; Roboz, Gail J GJ; Grimwade, David D; Valk, Peter J M PJ; D'Andrea, Richard J RJ; Carroll, Martin M; Park, Christopher Y CY; Neuberg, Donna D; Levine, Ross R; Melnick, Ari M AM; Mason, Christopher E CE
Publication Date: 2016-07

Variant appearance in text: DNMT3A: R635P
PubMed Link: 27322744
Variant Present in the following documents:
  • NIHMS786454-supplement-7.xlsx, sheet 1
View BVdb publication page