DNMT3A c.40_41delinsGC ;(p.S14A)

Variant ID: 2-25536813-CT-GC

NM_022552.4(DNMT3A):c.40_41delinsGC;(p.S14A)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Inflammatory signals from fatty bone marrow support DNMT3A driven clonal hematopoiesis.

Nature Communications
Zioni, N N; Bercovich, A Akhiad AA; Chapal-Ilani, N N; Bacharach, Tal T; Rappoport, N N; Solomon, A A; Avraham, R R; Kopitman, E E; Porat, Z Z; Sacma, M M; Hartmut, G G; Scheller, M M; Muller-Tidow, C C; Lipka, D D; Shlush, E E; Minden, M M; Kaushansky, N N; Shlush, Liran I LI
Publication Date: 2023-04-12

Variant appearance in text: DNMT3A: s14a
PubMed Link: 37045808
Variant Present in the following documents:
  • 41467_2023_36906_MOESM2_ESM.pdf
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Unveiling the methyl transfer mechanisms in the epigenetic machinery DNMT3A-3 L: A comprehensive study integrating assembly dynamics with catalytic reactions.

Computational And Structural Biotechnology Journal
Yang, Wei W; Zhuang, Jingyuan J; Li, Chen C; Cheng, Gui-Juan GJ
Publication Date: 2023

Variant appearance in text: DNMT3A: S14A
PubMed Link: 36968013
Variant Present in the following documents:
  • Main text
  • main.pdf
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Whole-exome sequencing reveals a comprehensive germline mutation landscape and identifies twelve novel predisposition genes in Chinese prostate cancer patients.

Plos Genetics
Liang, Yonghao Y; Chiu, Peter Ka-Fung PK; Zhu, Yao Y; Wong, Christine Yim-Ping CY; Xiong, Qing Q; Wang, Lin L; Teoh, Jeremy Yuen-Chun JY; Cao, Qin Q; Wei, Yu Y; Ye, Ding-Wei DW; Tsui, Stephen Kwok-Wing SK; Ng, Chi-Fai CF
Publication Date: 2022-09

Variant appearance in text: DNMT3A: S14A
PubMed Link: 36095024
Variant Present in the following documents:
  • Main text
  • pgen.1010373.pdf
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Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion.

Genome Medicine
Jensen, Matthew M; Tyryshkina, Anastasia A; Pizzo, Lucilla L; Smolen, Corrine C; Das, Maitreya M; Huber, Emily E; Krishnan, Arjun A; Girirajan, Santhosh S
Publication Date: 2021-10-18

Variant appearance in text: DNMT3A: S14A
PubMed Link: 34657631
Variant Present in the following documents:
  • Main text
  • 13073_2021_Article_982.pdf
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SLC5A3-dependent myo-inositol auxotrophy in acute myeloid leukemia.

Cancer Discovery
Wei, Yiliang Y; Huang, Yu-Han YH; Skopelitis, Damianos S DS; Iyer, Shruti V SV; Costa, Ana S H ASH; Yang, Zhaolin Z; Kramer, Melissa M; Adelman, Emmalee R ER; Klingbeil, Olaf O; Demerdash, Osama E OE; Polyanskaya, Sofya A SA; Chang, Kenneth K; Goodwin, Sara S; Hodges, Emily E; McCombie, W Richard WR; Figueroa, Maria E ME; Vakoc, Christopher R CR
Publication Date: 2021-09-16

Variant appearance in text: DNMT3A: S14A
PubMed Link: 34531253
Variant Present in the following documents:
  • Main text
  • 450.pdf
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SLC5A3-Dependent Myo-inositol Auxotrophy in Acute Myeloid Leukemia.

Cancer Discovery
Wei, Yiliang Y; Huang, Yu-Han YH; Skopelitis, Damianos S DS; Iyer, Shruti V SV; Costa, Ana S H ASH; Yang, Zhaolin Z; Kramer, Melissa M; Adelman, Emmalee R ER; Klingbeil, Olaf O; Demerdash, Osama E OE; Polyanskaya, Sofya A SA; Chang, Kenneth K; Goodwin, Sara S; Hodges, Emily E; McCombie, W Richard WR; Figueroa, Maria E ME; Vakoc, Christopher R CR
Publication Date: 2022-02

Variant appearance in text: DNMT3A: S14A
PubMed Link: 34531253
Variant Present in the following documents:
  • Main text
  • 450.pdf
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DNA methylation atlas and machinery in the developing and regenerating annelid Platynereis dumerilii.

Bmc Biology
Planques, Anabelle A; Kerner, Pierre P; Ferry, Laure L; Grunau, Christoph C; Gazave, Eve E; Vervoort, Michel M
Publication Date: 2021-08-03

Variant appearance in text: DNMT3A: S14A
PubMed Link: 34340707
Variant Present in the following documents:
  • Main text
  • 12915_2021_Article_1074.pdf
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A Functional Taxonomy of Tumor Suppression in Oncogenic KRAS-Driven Lung Cancer.

Cancer Discovery
Cai, Hongchen H; Chew, Su Kit SK; Li, Chuan C; Tsai, Min K MK; Andrejka, Laura L; Murray, Christopher W CW; Hughes, Nicholas W NW; Shuldiner, Emily G EG; Ashkin, Emily L EL; Tang, Rui R; Hung, King L KL; Chen, Leo C LC; Lee, Shi Ya C SYC; Yousefi, Maryam M; Lin, Wen-Yang WY; Kunder, Christian A CA; Cong, Le L; McFarland, Christopher D CD; Petrov, Dmitri A DA; Swanton, Charles C; Winslow, Monte M MM
Publication Date: 2021-07

Variant appearance in text: DNMT3A: S14A
PubMed Link: 33608386
Variant Present in the following documents:
  • Main text
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Immune landscapes predict chemotherapy resistance and immunotherapy response in acute myeloid leukemia.

Science Translational Medicine
Vadakekolathu, Jayakumar J; Minden, Mark D MD; Hood, Tressa T; Church, Sarah E SE; Reeder, Stephen S; Altmann, Heidi H; Sullivan, Amy H AH; Viboch, Elena J EJ; Patel, Tasleema T; Ibrahimova, Narmin N; Warren, Sarah E SE; Arruda, Andrea A; Liang, Yan Y; Smith, Thomas H TH; Foulds, Gemma A GA; Bailey, Michael D MD; Gowen-MacDonald, James J; Muth, John J; Schmitz, Marc M; Cesano, Alessandra A; Pockley, A Graham AG; Valk, Peter J M PJM; Löwenberg, Bob B; Bornhäuser, Martin M; Tasian, Sarah K SK; Rettig, Michael P MP; Davidson-Moncada, Jan K JK; DiPersio, John F JF; Rutella, Sergio S
Publication Date: 2020-06-03

Variant appearance in text: DNMT3A: S14A
PubMed Link: 32493790
Variant Present in the following documents:
  • Main text
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Epigenetic deregulation of lamina-associated domains in Hutchinson-Gilford progeria syndrome.

Genome Medicine
Köhler, Florian F; Bormann, Felix F; Raddatz, Günter G; Gutekunst, Julian J; Corless, Samuel S; Musch, Tanja T; Lonsdorf, Anke S AS; Erhardt, Sylvia S; Lyko, Frank F; Rodríguez-Paredes, Manuel M
Publication Date: 2020-05-25

Variant appearance in text: DNMT3A: S14A
PubMed Link: 32450911
Variant Present in the following documents:
  • Main text
  • 13073_2020_Article_749.pdf
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Human Hyperekplexic Mutations in Glycine Receptors Disinhibit the Brainstem by Hijacking GABAA Receptors.

Iscience
Zou, Guichang G; Chen, Qi Q; Chen, Kai K; Zuo, Xin X; Ge, Yushu Y; Hou, Yiwen Y; Pan, Tao T; Pan, Huilin H; Liu, Dan D; Zhang, Li L; Xiong, Wei W
Publication Date: 2019-09-27

Variant appearance in text: DNMT3A: S14A
PubMed Link: 31450193
Variant Present in the following documents:
  • main.pdf
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Guide Positioning Sequencing identifies aberrant DNA methylation patterns that alter cell identity and tumor-immune surveillance networks.

Genome Research
Li, Jin J; Li, Yan Y; Li, Wei W; Luo, Huaibing H; Xi, Yanping Y; Dong, Shihua S; Gao, Ming M; Xu, Peng P; Zhang, Baolong B; Liang, Ying Y; Zou, Qingping Q; Hu, Xin X; Peng, Lina L; Zou, Dan D; Wang, Ting T; Yang, Hongbo H; Jiang, Cizhong C; Peng, Shaoliang S; Wu, Feizhen F; Yu, Wenqiang W
Publication Date: 2019-02

Variant appearance in text: DNMT3A: S14A
PubMed Link: 30670627
Variant Present in the following documents:
  • 270.pdf
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FACER: comprehensive molecular and functional characterization of epigenetic chromatin regulators.

Nucleic Acids Research
Lu, Jianping J; Xu, Juan J; Li, Junyi J; Pan, Tao T; Bai, Jing J; Wang, Liqiang L; Jin, Xiyun X; Lin, Xiaoyu X; Zhang, Yunpeng Y; Li, Yongsheng Y; Sahni, Nidhi N; Li, Xia X
Publication Date: 2018-11-02

Variant appearance in text: DNMT3A: S14A
PubMed Link: 30102398
Variant Present in the following documents:
  • Main text
  • gky679.pdf
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Genome-wide determination of on-target and off-target characteristics for RNA-guided DNA methylation by dCas9 methyltransferases.

Gigascience
Lin, Lin L; Liu, Yong Y; Xu, Fengping F; Huang, Jinrong J; Daugaard, Tina Fuglsang TF; Petersen, Trine Skov TS; Hansen, Bettina B; Ye, Lingfei L; Zhou, Qing Q; Fang, Fang F; Yang, Ling L; Li, Shengting S; Fløe, Lasse L; Jensen, Kristopher Torp KT; Shrock, Ellen E; Chen, Fang F; Yang, Huanming H; Wang, Jian J; Liu, Xin X; Xu, Xun X; Bolund, Lars L; Nielsen, Anders Lade AL; Luo, Yonglun Y
Publication Date: 2018-03-01

Variant appearance in text: DNMT3A: S14a
PubMed Link: 29635374
Variant Present in the following documents:
  • Main text
  • giy011.pdf
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Importance of rare gene copy number alterations for personalized tumor characterization and survival analysis.

Genome Biology
Seifert, Michael M; Friedrich, Betty B; Beyer, Andreas A
Publication Date: 2016-10-03

Variant appearance in text: DNMT3A: S14a
PubMed Link: 27716417
Variant Present in the following documents:
  • Main text
  • 13059_2016_Article_1058.pdf
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Distinct and overlapping control of 5-methylcytosine and 5-hydroxymethylcytosine by the TET proteins in human cancer cells.

Genome Biology
Putiri, Emily L EL; Tiedemann, Rochelle L RL; Thompson, Joyce J JJ; Liu, Chunsheng C; Ho, Thai T; Choi, Jeong-Hyeon JH; Robertson, Keith D KD
Publication Date: 2014-06-23

Variant appearance in text: DNMT3A: S14A
PubMed Link: 24958354
Variant Present in the following documents:
  • Main text
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The dynamics of DNA methylation fidelity during mouse embryonic stem cell self-renewal and differentiation.

Genome Research
Zhao, Lei L; Sun, Ming-An MA; Li, Zejuan Z; Bai, Xue X; Yu, Miao M; Wang, Min M; Liang, Liji L; Shao, Xiaojian X; Arnovitz, Stephen S; Wang, Qianfei Q; He, Chuan C; Lu, Xuemei X; Chen, Jianjun J; Xie, Hehuang H
Publication Date: 2014-08

Variant appearance in text: DNMT3A: S14A
PubMed Link: 24835587
Variant Present in the following documents:
  • Main text
  • 1296.pdf
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