DNMT3A c.2312G>A ;(p.R771Q)

Variant ID: 2-25463181-C-T

NM_022552.4(DNMT3A):c.2312G>A;(p.R771Q)

This variant was identified in 48 publications

View GRCh38 version.




Publications:


Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesity.

Ebiomedicine
Andersson-Assarsson, Johanna C JC; van Deuren, Rosanne C RC; Kristensson, Felipe M FM; Steehouwer, Marloes M; Sjöholm, Kajsa K; Svensson, Per-Arne PA; Pieterse, Marc M; Gilissen, Christian C; Taube, Magdalena M; Jacobson, Peter P; Perkins, Rosie R; Brunner, Han G HG; Netea, Mihai G MG; Peltonen, Markku M; Carlsson, Björn B; Hoischen, Alexander A; Carlsson, Lena M S LMS
Publication Date: 2023-05-18

Variant appearance in text: DNMT3A: 2312G>A; Arg771Gln
PubMed Link: 37209535
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



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: R771Q
PubMed Link: 36751942
Variant Present in the following documents:
  • cd-22-0956_tables_s2_s7_s8_s9_suppst1.xlsx, sheet 4
View BVdb publication page



Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.

Frontiers In Oncology
Nguyen, Huu Thinh HT; Nguyen, Trieu Vu TV; Nguyen Hoang, Van-Anh VA; Tran, Duc Huy DH; Le Trinh, Ngoc An NA; Le, Minh Triet MT; Nguyen Tran, Tuan-Anh TA; Pham, Thanh Huyen TH; Dinh, Thi Cuc TC; Nguyen, Tien Sy TS; Nguyen The, Ky Cuong KC; Mai, Hoa H; Chu, Minh Tuan MT; Pham, Dinh Hoang DH; Nguyen, Xuan Chi XC; Ngo Ha, Thien My TM; Nguyen, Duy Sinh DS; Nguyen, Du Quyen DQ; Lu, Y-Thanh YT; Do Thi, Thanh Thuy TT; Truong, Dinh Kiet DK; Nguyen, Quynh Tho QT; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Tu, Lan N LN
Publication Date: 2022

Variant appearance in text: DNMT3A: R771Q
PubMed Link: 36578946
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 1
View BVdb publication page



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: 2312G>A; R771Q
PubMed Link: 36505399
Variant Present in the following documents:
  • Table_2.xlsx, sheet 3
  • Table_2.xlsx, sheet 2
View BVdb publication page



Recurrent missense variants in clonal hematopoiesis-related genes present in the general population.

Clinical Genetics
Ariste, Olivier O; de la Grange, Pierre P; Veitia, Reiner A RA
Publication Date: 2022-11-10

Variant appearance in text: DNMT3A: 2312G>A; Arg771Gln; rs757823678
PubMed Link: 36353970
Variant Present in the following documents:
  • CGE-103-247-s001.xlsx, sheet 1
View BVdb publication page



Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: DNMT3A: R771Q
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: DNMT3A: 2312G>A; R771Q
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: DNMT3A: 2312G>A; R771Q
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM6_ESM.xlsx, sheet 1
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: R771Q
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Longitudinal dynamics of clonal hematopoiesis identifies gene-specific fitness effects.

Nature Medicine
Robertson, Neil A NA; Latorre-Crespo, Eric E; Terradas-Terradas, Maria M; Lemos-Portela, Jorge J; Purcell, Alison C AC; Livesey, Benjamin J BJ; Hillary, Robert F RF; Murphy, Lee L; Fawkes, Angie A; MacGillivray, Louise L; Copland, Mhairi M; Marioni, Riccardo E RE; Marsh, Joseph A JA; Harris, Sarah E SE; Cox, Simon R SR; Deary, Ian J IJ; Schumacher, Linus J LJ; Kirschner, Kristina K; Chandra, Tamir T
Publication Date: 2022-07

Variant appearance in text: DNMT3A: 2312G>A; R771Q
PubMed Link: 35788175
Variant Present in the following documents:
  • 41591_2022_1883_MOESM3_ESM.xlsx, sheet 10
  • 41591_2022_1883_MOESM3_ESM.xlsx, sheet 3
  • 41591_2022_1883_MOESM3_ESM.xlsx, sheet 4
  • 41591_2022_1883_MOESM3_ESM.xlsx, sheet 2
  • 41591_2022_1883_MOESM3_ESM.xlsx, sheet 5
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: DNMT3A: R771Q
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



Clonal Hematopoiesis of Indeterminate Potential and Diabetic Kidney Disease: A Nested Case-Control Study.

Kidney International Reports
Denicolò, Sara S; Vogi, Verena V; Keller, Felix F; Thöni, Stefanie S; Eder, Susanne S; Heerspink, Hiddo J L HJL; Rosivall, László L; Wiecek, Andrzej A; Mark, Patrick B PB; Perco, Paul P; Leierer, Johannes J; Kronbichler, Andreas A; Steger, Marion M; Schwendinger, Simon S; Zschocke, Johannes J; Mayer, Gert G; Jukic, Emina E
Publication Date: 2022-04

Variant appearance in text: DNMT3A: 2312G>A; Arg771Gln
PubMed Link: 35497780
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: DNMT3A: 2312G>A; R771Q
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
Publication Date: 2022-01-05

Variant appearance in text: DNMT3A: R771Q
PubMed Link: 34986841
Variant Present in the following documents:
  • 12885_2021_8908_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
Publication Date: 2022-01-05

Variant appearance in text: DNMT3A: R771Q
PubMed Link: 34986841
Variant Present in the following documents:
  • 12885_2021_8908_MOESM2_ESM.xlsx, sheet 2
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: DNMT3A: R771Q
PubMed Link: 34906245
Variant Present in the following documents:
  • Main text
  • 40246_2021_371_MOESM1_ESM.xlsx, sheet 5
  • 40246_2021_Article_371.pdf
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: DNMT3A: R771Q
PubMed Link: 34906245
Variant Present in the following documents:
  • Main text
  • 40246_2021_371_MOESM1_ESM.xlsx, sheet 5
  • 40246_2021_Article_371.pdf
View BVdb publication page



Misregulation of the expression and activity of DNA methyltransferases in cancer.

Nar Cancer
Mensah, Isaiah K IK; Norvil, Allison B AB; AlAbdi, Lama L; McGovern, Sarah S; Petell, Christopher J CJ; He, Ming M; Gowher, Humaira H
Publication Date: 2021-12

Variant appearance in text: DNMT3A: Arg771Gln
PubMed Link: 34870206
Variant Present in the following documents:
  • Main text
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: R771Q
PubMed Link: 34855941
Variant Present in the following documents:
  • bloodBLD2021013531-suppl1.pdf
  • 10.1182-2021013531_bloodbld2021013531-suppl1.pdf
View BVdb publication page



CDKN2A loss-of-function predicts immunotherapy resistance in non-small cell lung cancer.

Scientific Reports
Gutiontov, Stanley I SI; Turchan, William Tyler WT; Spurr, Liam F LF; Rouhani, Sherin J SJ; Chervin, Carolina Soto CS; Steinhardt, George G; Lager, Angela M AM; Wanjari, Pankhuri P; Malik, Renuka R; Connell, Philip P PP; Chmura, Steven J SJ; Juloori, Aditya A; Hoffman, Philip C PC; Ferguson, Mark K MK; Donington, Jessica S JS; Patel, Jyoti D JD; Vokes, Everett E EE; Weichselbaum, Ralph R RR; Bestvina, Christine M CM; Segal, Jeremy P JP; Pitroda, Sean P SP
Publication Date: 2021-10-08

Variant appearance in text: DNMT3A: 2312G>A; R771Q
PubMed Link: 34625620
Variant Present in the following documents:
  • 41598_2021_99524_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.

Haematologica
Gutierrez-Rodrigues, Fernanda F; Beerman, Isabel I; Groarke, Emma M EM; Patel, Bhavisha A BA; Spitofsky, Nina N; Dillon, Laura W LW; Raffo, Diego Quinones DQ; Hourigan, Christopher S CS; Kajigaya, Sachiko S; Ferrucci, Luigi L; Young, Neal S NS
Publication Date: 2022-08-01

Variant appearance in text: DNMT3A: 2312G>A; Arg771Gln
PubMed Link: 34587721
Variant Present in the following documents:
  • 2021_279230_GUTIERREZ-RODRIGUES_SUPPL.pdf
View BVdb publication page



Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology
Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN
Publication Date: 2021

Variant appearance in text: DNMT3A: R771Q
PubMed Link: 34113354
Variant Present in the following documents:
  • Table_1.xlsx, sheet 18
View BVdb publication page



Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome.

Haematologica
Tovy, Ayala A; Rosas, Carina C; Gaikwad, Amos S AS; Medrano, Geraldo G; Zhang, Linda L; Reyes, Jaime M JM; Huang, Yung-Hsin YH; Arakawa, Tastuhiko T; Kurtz, Kristen K; Conneely, Shannon E SE; Guzman, Anna G AG; Aguilar, Rogelio R; Gao, Anne A; Chen, Chun-Wei CW; Kim, Jean J JJ; Carter, Melissa T MT; Lasa-Aranzasti, Amaia A; Valenzuela, Irene I; Van Maldergem, Lionel L; Brunetti, Lorenzo L; Hicks, M John MJ; Marcogliese, Andrea N AN; Goodell, Margaret A MA; Rau, Rachel E RE
Publication Date: 2022-04-01

Variant appearance in text: DNMT3A: R771Q
PubMed Link: 34092059
Variant Present in the following documents:
  • Main text
  • 107887.pdf
View BVdb publication page



DNMT3A haploinsufficiency causes dichotomous DNA methylation defects at enhancers in mature human immune cells.

The Journal Of Experimental Medicine
Lim, Jung-Yeon JY; Duttke, Sascha H SH; Baker, Turner S TS; Lee, Jihye J; Gambino, Kristyne J KJ; Venturini, Nicholas J NJ; Ho, Jessica Sook Yuin JSY; Zheng, Simin S; Fstkchyan, Yesai S YS; Pillai, Vinodh V; Fajgenbaum, David C DC; Marazzi, Ivan I; Benner, Christopher C; Byun, Minji M
Publication Date: 2021-07-05

Variant appearance in text: DNMT3A: R771Q
PubMed Link: 33970190
Variant Present in the following documents:
  • Main text
View BVdb publication page



Patient-Derived Organoid Models of Human Neuroendocrine Carcinoma.

Frontiers In Endocrinology
Dijkstra, Krijn K KK; van den Berg, José G JG; Weeber, Fleur F; van de Haar, Joris J; Velds, Arno A; Kaing, Sovann S; Peters, Dennis D G C DDGC; Eskens, Ferry A L M FALM; de Groot, Derk-Jan A DA; Tesselaar, Margot E T MET; Voest, Emile E EE
Publication Date: 2021

Variant appearance in text: DNMT3A: 2312G>A; Arg771Gln
PubMed Link: 33776923
Variant Present in the following documents:
  • Table_2.xlsx, sheet 2
View BVdb publication page



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: Arg771Gln
PubMed Link: 33580203
Variant Present in the following documents:
  • 41375_2021_1153_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: DNMT3A: 2312G>A; R771Q
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_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: R771Q
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s003.xlsx, sheet 1
View BVdb publication page



Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.

Clinical And Translational Medicine
Li, Ziyang Z; Huang, Wensou W; Yin, Jiani C JC; Na, Chenglong C; Wu, Xue X; Shao, Yang Y; Ding, Huaxin H; Li, Jinming J
Publication Date: 2020-11

Variant appearance in text: DNMT3A: 2312G>A; R771Q; rs757823678
PubMed Link: 33252848
Variant Present in the following documents:
  • CTM2-10-e222-s003.xlsx, sheet 1
View BVdb publication page



Alterations to DNMT3A in Hematologic Malignancies.

Cancer Research
Venugopal, Kartika K; Feng, Yang Y; Shabashvili, Daniil D; Guryanova, Olga A OA
Publication Date: 2021-01-15

Variant appearance in text: DNMT3A: R771Q
PubMed Link: 33087320
Variant Present in the following documents:
  • Main text
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: R771Q
PubMed Link: 33057201
Variant Present in the following documents:
  • NIHMS1609346-supplement-1609346_SuppTables.xlsx, sheet 4
View BVdb publication page



DNA methyltransferases in hematological malignancies.

Journal Of Genetics And Genomics = Yi Chuan Xue Bao
Hoang, Nguyet-Minh NM; Rui, Lixin L
Publication Date: 2020-07-20

Variant appearance in text: DNMT3A: R771Q
PubMed Link: 32994141
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical significance of chromatin-spliceosome acute myeloid leukemia: a report from the Northern Italy Leukemia Group (NILG) randomized trial 02/06.

Haematologica
Caprioli, Chiara C; Lussana, Federico F; Salmoiraghi, Silvia S; Cavagna, Roberta R; Buklijas, Ksenija K; Elidi, Lara L; Zanghi', Pamela P; Michelato, Anna A; Delaini, Federica F; Oldani, Elena E; Intermesoli, Tamara T; Grassi, Anna A; Gianfaldoni, Giacomo G; Mannelli, Francesco F; Ferrero, Dario D; Audisio, Ernesta E; Terruzzi, Elisabetta E; De Paoli, Lorella L; Cattaneo, Chiara C; Borlenghi, Erika E; Cavattoni, Irene I; Tajana, Monica M; Scattolin, Anna Maria AM; Mattei, Daniele D; Corradini, Paolo P; Campiotti, Leonardo L; Ciceri, Fabio F; Bernardi, Massimo M; Todisco, Elisabetta E; Cortelezzi, Agostino A; Falini, Brunangelo B; Pavoni, Chiara C; Bassan, Renato R; Spinelli, Orietta O; Rambaldi, Alessandro A
Publication Date: 2021-10-01

Variant appearance in text: DNMT3A: 2312G>A; Arg771Gln
PubMed Link: 32855275
Variant Present in the following documents:
  • 2020_252825_CAPRIOLI_SUPPL.pdf
View BVdb publication page



Tissue-Biased Expansion of DNMT3A-Mutant Clones in a Mosaic Individual Is Associated with Conserved Epigenetic Erosion.

Cell Stem Cell
Tovy, Ayala A; Reyes, Jaime M JM; Gundry, Michael C MC; Brunetti, Lorenzo L; Lee-Six, Henry H; Petljak, Mia M; Park, Hyun Jung HJ; Guzman, Anna G AG; Rosas, Carina C; Jeffries, Aaron R AR; Baple, Emma E; Mill, Jonathan J; Crosby, Andrew H AH; Sency, Valerie V; Xin, Baozhong B; Machado, Heather E HE; Castillo, Danielle D; Weitzel, Jeffrey N JN; Li, Wei W; Stratton, Michael R MR; Campbell, Peter J PJ; Wang, Heng H; Sanders, Mathijs A MA; Goodell, Margaret A MA
Publication Date: 2020-08-06

Variant appearance in text: DNMT3A: 2312G>A; R771Q
PubMed Link: 32673568
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: DNMT3A: 2312G>A; R771Q
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Functional Analysis of DNMT3A DNA Methyltransferase Mutations Reported in Patients with Acute Myeloid Leukemia.

Biomolecules
Khrabrova, Daria A DA; Loiko, Andrei G AG; Tolkacheva, Anastasia A AA; Cherepanova, Natalia A NA; Zvereva, Maria I MI; Kirsanova, Olga V OV; Gromova, Elizaveta S ES
Publication Date: 2019-12-18

Variant appearance in text: DNMT3A: R771Q
PubMed Link: 31861499
Variant Present in the following documents:
  • Main text
  • biomolecules-10-00008.pdf
View BVdb publication page



High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine
Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS
Publication Date: 2019-12

Variant appearance in text: DNMT3A: 2312G>A; R771Q; rs757823678
PubMed Link: 31768066
Variant Present in the following documents:
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4
  • NIHMS1541314-supplement-1541314_SourceDataExtFig8.xlsx, sheet 1
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 5
View BVdb publication page



Identification of 12 cancer types through genome deep learning.

Scientific Reports
Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W
Publication Date: 2019-11-21

Variant appearance in text: DNMT3A: R771Q
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.

Genome Research
Jeffries, Aaron R AR; Maroofian, Reza R; Salter, Claire G CG; Chioza, Barry A BA; Cross, Harold E HE; Patton, Michael A MA; Dempster, Emma E; Temple, I Karen IK; Mackay, Deborah J G DJG; Rezwan, Faisal I FI; Aksglaede, Lise L; Baralle, Diana D; Dabir, Tabib T; Hunter, Matthew F MF; Kamath, Arveen A; Kumar, Ajith A; Newbury-Ecob, Ruth R; Selicorni, Angelo A; Springer, Amanda A; Van Maldergem, Lionel L; Varghese, Vinod V; Yachelevich, Naomi N; Tatton-Brown, Katrina K; Mill, Jonathan J; Crosby, Andrew H AH; Baple, Emma L EL
Publication Date: 2019-07

Variant appearance in text: DNMT3A: 2312G>A; Arg771Gln
PubMed Link: 31160375
Variant Present in the following documents:
  • Main text
  • supp_gr.243584.118_Supplemental_Table_S1.xlsx, sheet 1
  • supp_gr.243584.118_Supplemental_Table_S3.xlsx, sheet 1
View BVdb publication page



Effect of Disease-Associated Germline Mutations on Structure Function Relationship of DNA Methyltransferases.

Genes
Norvil, Allison B AB; Saha, Debapriya D; Dar, Mohd Saleem MS; Gowher, Humaira H
Publication Date: 2019-05-14

Variant appearance in text: DNMT3A: Arg771Gln
PubMed Link: 31091831
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epigenetic Enzyme Mutations: Role in Tumorigenesis and Molecular Inhibitors.

Frontiers In Oncology
Han, Mei M; Jia, Lina L; Lv, Wencai W; Wang, Lihui L; Cui, Wei W
Publication Date: 2019

Variant appearance in text: DNMT3A: R771Q
PubMed Link: 30984620
Variant Present in the following documents:
  • Main text
  • fonc-09-00194.pdf
View BVdb publication page



Mutations in the DNMT3A DNA methyltransferase in acute myeloid leukemia patients cause both loss and gain of function and differential regulation by protein partners.

The Journal Of Biological Chemistry
Sandoval, Jonathan E JE; Huang, Yung-Hsin YH; Muise, Abigail A; Goodell, Margaret A MA; Reich, Norbert O NO
Publication Date: 2019-03-29

Variant appearance in text: DNMT3A: R771Q
PubMed Link: 30705090
Variant Present in the following documents:
  • Main text
View BVdb publication page



An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports
Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U
Publication Date: 2018-09-10

Variant appearance in text: DNMT3A: R771Q
PubMed Link: 30202034
Variant Present in the following documents:
  • 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30
View BVdb publication page



The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

Wellcome Open Research
Tatton-Brown, Katrina K; Zachariou, Anna A; Loveday, Chey C; Renwick, Anthony A; Mahamdallie, Shazia S; Aksglaede, Lise L; Baralle, Diana D; Barge-Schaapveld, Daniela D; Blyth, Moira M; Bouma, Mieke M; Breckpot, Jeroen J; Crabb, Beau B; Dabir, Tabib T; Cormier-Daire, Valerie V; Fauth, Christine C; Fisher, Richard R; Gener, Blanca B; Goudie, David D; Homfray, Tessa T; Hunter, Matthew M; Jorgensen, Agnete A; Kant, Sarina G SG; Kirally-Borri, Cathy C; Koolen, David D; Kumar, Ajith A; Labilloy, Anatalia A; Lees, Melissa M; Marcelis, Carlo C; Mercer, Catherine C; Mignot, Cyril C; Miller, Kathryn K; Neas, Katherine K; Newbury-Ecob, Ruth R; Pilz, Daniela T DT; Posmyk, Renata R; Prada, Carlos C; Ramsey, Keri K; Randolph, Linda M LM; Selicorni, Angelo A; Shears, Deborah D; Suri, Mohnish M; Temple, I Karen IK; Turnpenny, Peter P; Val Maldergem, Lionel L; Varghese, Vinod V; Veenstra-Knol, Hermine E HE; Yachelevich, Naomi N; Yates, Laura L; , ; , ; Rahman, Nazneen N
Publication Date: 2018

Variant appearance in text: DNMT3A: 2312G>A; Arg771Gln
PubMed Link: 29900417
Variant Present in the following documents:
  • Main text
  • wellcomeopenres-3-15708.pdf
View BVdb publication page



Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.

Oncotarget
Oliveira, Duarte Mendes DM; Laudanna, Carmelo C; Migliozzi, Simona S; Zoppoli, Pietro P; Santamaria, Gianluca G; Grillone, Katia K; Elia, Laura L; Mignogna, Chiara C; Biamonte, Flavia F; Sacco, Rosario R; Corcione, Francesco F; Viglietto, Giuseppe G; Malanga, Donatella D; Rizzuto, Antonia A
Publication Date: 2018-05-08

Variant appearance in text: DNMT3A: R771Q
PubMed Link: 29844865
Variant Present in the following documents:
  • oncotarget-09-23960-s003.xlsx, sheet 1
  • oncotarget-09-23960-s004.xlsx, sheet 1
View BVdb publication page



Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
Publication Date: 2018-07

Variant appearance in text: DNMT3A: 2312G>A; R771Q
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s021.xlsx, sheet 1
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: R771Q
PubMed Link: 27322744
Variant Present in the following documents:
  • NIHMS786454-supplement-7.xlsx, sheet 1
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: R771Q
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
  • NIHMS630249-supplement-5.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: R771Q
PubMed Link: 24348198
Variant Present in the following documents:
  • 948617.f1.pdf
View BVdb publication page



Single nucleotide polymorphism array lesions, TET2, DNMT3A, ASXL1 and CBL mutations are present in systemic mastocytosis.

Plos One
Traina, Fabiola F; Visconte, Valeria V; Jankowska, Anna M AM; Makishima, Hideki H; O'Keefe, Christine L CL; Elson, Paul P; Han, Yingchun Y; Hsieh, Fred H FH; Sekeres, Mikkael A MA; Mali, Raghuveer Singh RS; Kalaycio, Matt M; Lichtin, Alan E AE; Advani, Anjali S AS; Duong, Hien K HK; Copelan, Edward E; Kapur, Reuben R; Olalla Saad, Sara T ST; Maciejewski, Jaroslaw P JP; Tiu, Ramon V RV
Publication Date: 2012

Variant appearance in text: DNMT3A: 2312G>A; R771Q
PubMed Link: 22905207
Variant Present in the following documents:
  • Main text
  • pone.0043090.pdf
View BVdb publication page