JAK2 c.2503G>T ;(p.A835S)

Variant ID: 9-5081793-G-T

NM_004972.3(JAK2):c.2503G>T;(p.A835S)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Clonal hematopoiesis is associated with increased risk of progression of asymptomatic Waldenström macroglobulinemia.

Blood Advances
Tahri, Sabrin S; Mouhieddine, Tarek H TH; Redd, Robert R; Lampe, Luisa L; Nilsson, Katarina I KI; El-Khoury, Habib H; Su, Nang Kham NK; Nassar, Amin H AH; Adib, Elio E; Bindra, Govind G; Abou Alaiwi, Sarah S; Trippa, Lorenzo L; Steensma, David P DP; Castillo, Jorge J JJ; Treon, Steven P SP; Ghobrial, Irene M IM; Sperling, Adam S AS
Publication Date: 2022-04-12

Variant appearance in text: JAK2: 2503G>T
PubMed Link: 34847227
Variant Present in the following documents:
  • advancesADV2021004926-suppl1.pdf
View BVdb publication page



Clinico-Biological Features and Clonal Hematopoiesis in Patients with Severe COVID-19.

Cancers
Duployez, Nicolas N; Demonchy, Jordane J; Berthon, Céline C; Goutay, Julien J; Caplan, Morgan M; Moreau, Anne-Sophie AS; Bignon, Anne A; Marceau-Renaut, Alice A; Garrigue, Delphine D; Raczkiewicz, Imelda I; Geffroy, Sandrine S; Bucci, Maxime M; Alidjinou, Kazali K; Demaret, Julie J; Labalette, Myriam M; Brousseau, Thierry T; Dupont, Annabelle A; Rauch, Antoine A; Poissy, Julien J; Susen, Sophie S; Preudhomme, Claude C; Quesnel, Bruno B
Publication Date: 2020-07-21

Variant appearance in text: JAK2: 2503G>T
PubMed Link: 32708264
Variant Present in the following documents:
  • cancers-12-01992-s001.pdf
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Novel and Rare Fusion Transcripts Involving Transcription Factors and Tumor Suppressor Genes in Acute Myeloid Leukemia.

Cancers
Padella, Antonella A; Simonetti, Giorgia G; Paciello, Giulia G; Giotopoulos, George G; Baldazzi, Carmen C; Righi, Simona S; Ghetti, Martina M; Stengel, Anna A; Guadagnuolo, Viviana V; De Tommaso, Rossella R; Papayannidis, Cristina C; Robustelli, Valentina V; Franchini, Eugenia E; Rorà, Andrea Ghelli Luserna di AGLD; Ferrari, Anna A; Fontana, Maria Chiara MC; Bruno, Samantha S; Ottaviani, Emanuela E; Soverini, Simona S; Storlazzi, Clelia Tiziana CT; Haferlach, Claudia C; Sabattini, Elena E; Testoni, Nicoletta N; Iacobucci, Ilaria I; Huntly, Brian J P BJP; Ficarra, Elisa E; Martinelli, Giovanni G
Publication Date: 2019-12-05

Variant appearance in text: JAK2: 2503G>T
PubMed Link: 31817495
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multilaboratory Assessment of a New Reference Material for Quality Assurance of Cell-Free Tumor DNA Measurements.

The Journal Of Molecular Diagnostics : Jmd
He, Hua-Jun HJ; Stein, Erica V EV; Konigshofer, Yves Y; Forbes, Thomas T; Tomson, Farol L FL; Garlick, Russell R; Yamada, Emiko E; Godfrey, Tony T; Abe, Toshiya T; Tamura, Koji K; Borges, Michael M; Goggins, Michael M; Elmore, Sandra S; Gulley, Margaret L ML; Larson, Jessica L JL; Ringel, Lando L; Haynes, Brian C BC; Karlovich, Chris C; Williams, P Mickey PM; Garnett, Aaron A; Ståhlberg, Anders A; Filges, Stefan S; Sorbara, Lynn L; Young, Mathew R MR; Srivastava, Sudhir S; Cole, Kenneth D KD
Publication Date: 2019-07

Variant appearance in text: JAK2: 2503G>T
PubMed Link: 31055023
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Functional genomic landscape of acute myeloid leukaemia.

Nature
Tyner, Jeffrey W JW; Tognon, Cristina E CE; Bottomly, Daniel D; Wilmot, Beth B; Kurtz, Stephen E SE; Savage, Samantha L SL; Long, Nicola N; Schultz, Anna Reister AR; Traer, Elie E; Abel, Melissa M; Agarwal, Anupriya A; Blucher, Aurora A; Borate, Uma U; Bryant, Jade J; Burke, Russell R; Carlos, Amy A; Carpenter, Richie R; Carroll, Joseph J; Chang, Bill H BH; Coblentz, Cody C; d'Almeida, Amanda A; Cook, Rachel R; Danilov, Alexey A; Dao, Kim-Hien T KT; Degnin, Michie M; Devine, Deirdre D; Dibb, James J; Edwards, David K DK; Eide, Christopher A CA; English, Isabel I; Glover, Jason J; Henson, Rachel R; Ho, Hibery H; Jemal, Abdusebur A; Johnson, Kara K; Johnson, Ryan R; Junio, Brian B; Kaempf, Andy A; Leonard, Jessica J; Lin, Chenwei C; Liu, Selina Qiuying SQ; Lo, Pierrette P; Loriaux, Marc M MM; Luty, Samuel S; Macey, Tara T; MacManiman, Jason J; Martinez, Jacqueline J; Mori, Motomi M; Nelson, Dylan D; Nichols, Ceilidh C; Peters, Jill J; Ramsdill, Justin J; Rofelty, Angela A; Schuff, Robert R; Searles, Robert R; Segerdell, Erik E; Smith, Rebecca L RL; Spurgeon, Stephen E SE; Sweeney, Tyler T; Thapa, Aashis A; Visser, Corinne C; Wagner, Jake J; Watanabe-Smith, Kevin K; Werth, Kristen K; Wolf, Joelle J; White, Libbey L; Yates, Amy A; Zhang, Haijiao H; Cogle, Christopher R CR; Collins, Robert H RH; Connolly, Denise C DC; Deininger, Michael W MW; Drusbosky, Leylah L; Hourigan, Christopher S CS; Jordan, Craig T CT; Kropf, Patricia P; Lin, Tara L TL; Martinez, Micaela E ME; Medeiros, Bruno C BC; Pallapati, Rachel R RR; Pollyea, Daniel A DA; Swords, Ronan T RT; Watts, Justin M JM; Weir, Scott J SJ; Wiest, David L DL; Winters, Ryan M RM; McWeeney, Shannon K SK; Druker, Brian J BJ
Publication Date: 2018-10

Variant appearance in text: JAK2: 2503G>T
PubMed Link: 30333627
Variant Present in the following documents:
  • NIHMS1504008-supplement-Supplementary_Tables_S1-S22.xlsx, sheet 5
View BVdb publication page



A tale of two siblings: two cases of AML arising from a single pre-leukemic DNMT3A mutant clone.

Leukemia
Hahn, C N CN; Ross, D M DM; Feng, J J; Beligaswatte, A A; Hiwase, D K DK; Parker, W T WT; Ho, M M; Zawitkowski, M M; Ambler, K L KL; Cheetham, G D GD; Lee, Y K YK; Babic, M M; Butcher, C M CM; Engler, G A GA; Brown, A L AL; D'Andrea, R J RJ; Lewis, I D ID; Schreiber, A W AW; To, L B LB; Scott, H S HS
Publication Date: 2015-10

Variant appearance in text: JAK2: 2503G>T
PubMed Link: 25748685
Variant Present in the following documents:
View BVdb publication page