DNMT3A c.2261T>C ;(p.L754P)

Variant ID: 2-25463232-A-G

NM_022552.4(DNMT3A):c.2261T>C;(p.L754P)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology
Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W
Publication Date: 2022

Variant appearance in text: DNMT3A: 2261T>C; L754P
PubMed Link: 36238300
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
View BVdb publication page



EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine
Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W
Publication Date: 2022-09-19

Variant appearance in text: DNMT3A: 2261T>C; L754P
PubMed Link: 36123678
Variant Present in the following documents:
  • 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: DNMT3A: L754P
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.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: L754P
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



Immunosuppression and outcomes in adult patients with de novo acute myeloid leukemia with normal karyotypes.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ferraro, Francesca F; Miller, Christopher A CA; Christensen, Keegan A KA; Helton, Nichole M NM; O'Laughlin, Margaret M; Fronick, Catrina C CC; Fulton, Robert S RS; Kohlschmidt, Jessica J; Eisfeld, Ann-Kathrin AK; Bloomfield, Clara D CD; Ramakrishnan, Sai Mukund SM; Day, Ryan B RB; Wartman, Lukas D LD; Uy, Geoffrey L GL; Welch, John S JS; Christopher, Matthew J MJ; Heath, Sharon E SE; Baty, Jack D JD; Schuelke, Matthew J MJ; Payton, Jacqueline E JE; Spencer, David H DH; Rettig, Michael P MP; Link, Daniel C DC; Walter, Matthew J MJ; Westervelt, Peter P; DiPersio, John F JF; Ley, Timothy J TJ
Publication Date: 2021-12-07

Variant appearance in text: DNMT3A: L754P
PubMed Link: 34845035
Variant Present in the following documents:
  • pnas.2116427118.sd02.xlsx, sheet 1
View BVdb publication page



Immunosuppression and outcomes in adult patients with de novo acute myeloid leukemia with normal karyotypes.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ferraro, Francesca F; Miller, Christopher A CA; Christensen, Keegan A KA; Helton, Nichole M NM; O'Laughlin, Margaret M; Fronick, Catrina C CC; Fulton, Robert S RS; Kohlschmidt, Jessica J; Eisfeld, Ann-Kathrin AK; Bloomfield, Clara D CD; Ramakrishnan, Sai Mukund SM; Day, Ryan B RB; Wartman, Lukas D LD; Uy, Geoffrey L GL; Welch, John S JS; Christopher, Matthew J MJ; Heath, Sharon E SE; Baty, Jack D JD; Schuelke, Matthew J MJ; Payton, Jacqueline E JE; Spencer, David H DH; Rettig, Michael P MP; Link, Daniel C DC; Walter, Matthew J MJ; Westervelt, Peter P; DiPersio, John F JF; Ley, Timothy J TJ
Publication Date: 2021-12-07

Variant appearance in text: DNMT3A: L754P
PubMed Link: 34845035
Variant Present in the following documents:
  • pnas.2116427118.sd02.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: L754P
PubMed Link: 33057201
Variant Present in the following documents:
  • NIHMS1609346-supplement-1609346_SuppTables.xlsx, sheet 4
View BVdb publication page