DNMT3A c.2192T>G ;(p.F731C)

Variant ID: 2-25463301-A-C

NM_022552.4(DNMT3A):c.2192T>G;(p.F731C)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: 2192T>G; Phe731Cys
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: F731C
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



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: F731C
PubMed Link: 34855941
Variant Present in the following documents:
  • 10.1182-2021013531_bloodbld2021013531-suppl1.pdf
  • bloodBLD2021013531-suppl1.pdf
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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: F731C
PubMed Link: 24348198
Variant Present in the following documents:
  • 948617.f1.pdf
View BVdb publication page



Frequency, onset and clinical impact of somatic DNMT3A mutations in therapy-related and secondary acute myeloid leukemia.

Haematologica
Fried, Isabella I; Bodner, Claudia C; Pichler, Monika M MM; Lind, Karin K; Beham-Schmid, Christine C; Quehenberger, Franz F; Sperr, Wolfgang R WR; Linkesch, Werner W; Sill, Heinz H; Wölfler, Albert A
Publication Date: 2012-02

Variant appearance in text: DNMT3A: F731C
PubMed Link: 21993668
Variant Present in the following documents:
  • Main text
View BVdb publication page