DNMT3A c.1628dup ;(p.R544Pfs*2)

Variant ID: 2-25467447-G-GC

NM_022552.4(DNMT3A):c.1628dup;(p.R544Pfs*2)

This variant was identified in 6 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: 1628dupG; Arg544Profs*2
PubMed Link: 37209535
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Distinct mutational pattern of T-cell large granular lymphocyte leukemia combined with pure red cell aplasia: low mutational burden of STAT3.

Scientific Reports
Park, Sooyong S; Yun, Jiwon J; Choi, Sung Yoon SY; Jeong, Dajeong D; Gu, Ja-Yoon JY; Lee, Jee-Soo JS; Seong, Moon-Woo MW; Chang, Yoon Hwan YH; Yun, Hongseok H; Kim, Hyun Kyung HK
Publication Date: 2023-05-04

Variant appearance in text: DNMT3A: 1628dup; Arg544Profs*2
PubMed Link: 37142644
Variant Present in the following documents:
  • 41598_2023_33928_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Longitudinal profiling of clonal hematopoiesis provides insight into clonal dynamics.

Immunity & Ageing : I & A
Uddin, Md Mesbah MM; Zhou, Ying Y; Bick, Alexander G AG; Burugula, Bala Bharathi BB; Jaiswal, Siddhartha S; Desai, Pinkal P; Honigberg, Michael C MC; Love, Shelly-Ann SA; Barac, Ana A; Hayden, Kathleen M KM; Manson, JoAnn E JE; Whitsel, Eric A EA; Kooperberg, Charles C; Natarajan, Pradeep P; Reiner, Alexander P AP; Kitzman, Jacob O JO
Publication Date: 2022-05-24

Variant appearance in text: DNMT3A: 1628dupG; R544Pfs*2
PubMed Link: 35610705
Variant Present in the following documents:
  • 12979_2022_278_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019

Variant appearance in text: DNMT3A: 1628_1629insG; Arg544fs
PubMed Link: 30608972
Variant Present in the following documents:
  • pone.0210079.s007.xlsx, sheet 21
View BVdb publication page



Prediction of acute myeloid leukaemia risk in healthy individuals.

Nature
Abelson, Sagi S; Collord, Grace G; Ng, Stanley W K SWK; Weissbrod, Omer O; Mendelson Cohen, Netta N; Niemeyer, Elisabeth E; Barda, Noam N; Zuzarte, Philip C PC; Heisler, Lawrence L; Sundaravadanam, Yogi Y; Luben, Robert R; Hayat, Shabina S; Wang, Ting Ting TT; Zhao, Zhen Z; Cirlan, Iulia I; Pugh, Trevor J TJ; Soave, David D; Ng, Karen K; Latimer, Calli C; Hardy, Claire C; Raine, Keiran K; Jones, David D; Hoult, Diana D; Britten, Abigail A; McPherson, John D JD; Johansson, Mattias M; Mbabaali, Faridah F; Eagles, Jenna J; Miller, Jessica K JK; Pasternack, Danielle D; Timms, Lee L; Krzyzanowski, Paul P; Awadalla, Philip P; Costa, Rui R; Segal, Eran E; Bratman, Scott V SV; Beer, Philip P; Behjati, Sam S; Martincorena, Inigo I; Wang, Jean C Y JCY; Bowles, Kristian M KM; Quirós, J Ramón JR; Karakatsani, Anna A; La Vecchia, Carlo C; Trichopoulou, Antonia A; Salamanca-Fernández, Elena E; Huerta, José M JM; Barricarte, Aurelio A; Travis, Ruth C RC; Tumino, Rosario R; Masala, Giovanna G; Boeing, Heiner H; Panico, Salvatore S; Kaaks, Rudolf R; Krämer, Alwin A; Sieri, Sabina S; Riboli, Elio E; Vineis, Paolo P; Foll, Matthieu M; McKay, James J; Polidoro, Silvia S; Sala, Núria N; Khaw, Kay-Tee KT; Vermeulen, Roel R; Campbell, Peter J PJ; Papaemmanuil, Elli E; Minden, Mark D MD; Tanay, Amos A; Balicer, Ran D RD; Wareham, Nicholas J NJ; Gerstung, Moritz M; Dick, John E JE; Brennan, Paul P; Vassiliou, George S GS; Shlush, Liran I LI
Publication Date: 2018-07

Variant appearance in text: N/A
PubMed Link: 29988082
Variant Present in the following documents:
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: DNMT3A: 1623_1624insG; Arg544fs
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s10.xlsx, sheet 8
View BVdb publication page