JAK2 c.2171T>C ;(p.I724T)

Variant ID: 9-5080268-T-C

NM_004972.3(JAK2):c.2171T>C;(p.I724T)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: JAK2: I724T; rs372254348
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: JAK2: I724T; rs372254348
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Author Correction: Cell-autonomous megakaryopoiesis associated with polyclonal hematopoiesis in triple-negative essential thrombocythemia.

Scientific Reports
Inano, Tadaaki T; Araki, Marito M; Morishita, Soji S; Imai, Misa M; Kihara, Yoshihiko Y; Okuda, Maho M; Yang, Yinjie Y; Ito, Masafumi M; Osaga, Satoshi S; Mano, Hiroyuki H; Edahiro, Yoko Y; Ochiai, Tomonori T; Misawa, Kyohei K; Fukuda, Yasutaka Y; Ando, Jun J; Komatsu, Norio N
Publication Date: 2022-01-17

Variant appearance in text: JAK2: I724T
PubMed Link: 35039617
Variant Present in the following documents:
  • 41598_2022_Article_4977.pdf
View BVdb publication page



Cell-autonomous megakaryopoiesis associated with polyclonal hematopoiesis in triple-negative essential thrombocythemia.

Scientific Reports
Inano, Tadaaki T; Araki, Marito M; Morishita, Soji S; Imai, Misa M; Kihara, Yoshihiko Y; Okuda, Maho M; Yang, Yinjie Y; Ito, Masafumi M; Osaga, Satoshi S; Mano, Hiroyuki H; Edahiro, Yoko Y; Ochiai, Tomonori T; Misawa, Kyohei K; Fukuda, Yasutaka Y; Ando, Jun J; Komatsu, Norio N
Publication Date: 2021-09-06

Variant appearance in text: JAK2: I724T
PubMed Link: 34489506
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_97106.pdf
  • 41598_2021_97106_MOESM1_ESM.pdf
View BVdb publication page



Mutation profile of non-small cell lung cancer revealed by next generation sequencing.

Respiratory Research
Chang, Ya-Sian YS; Tu, Siang-Jyun SJ; Chen, Yu-Chia YC; Liu, Ting-Yuan TY; Lee, Ya-Ting YT; Yen, Ju-Chen JC; Fang, Hsin-Yuan HY; Chang, Jan-Gowth JG
Publication Date: 2021-01-06

Variant appearance in text: JAK2: 2171T>C; I724T; rs372254348
PubMed Link: 33407425
Variant Present in the following documents:
  • 12931_2020_1608_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Capture-based Next-Generation Sequencing Improves the Identification of Immunoglobulin/T-Cell Receptor Clonal Markers and Gene Mutations in Adult Acute Lymphoblastic Leukemia Patients Lacking Molecular Probes.

Cancers
Cavagna, Roberta R; Guinea Montalvo, Marie L ML; Tosi, Manuela M; Paris, Michela M; Pavoni, Chiara C; Intermesoli, Tamara T; Bassan, Renato R; Mosca, Andrea A; Rambaldi, Alessandro A; Spinelli, Orietta O
Publication Date: 2020-06-09

Variant appearance in text: JAK2: 2171T>C; Ile724Thr
PubMed Link: 32526928
Variant Present in the following documents:
  • Main text
  • cancers-12-01505.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs372254348
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications
Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F
Publication Date: 2016-08-18

Variant appearance in text: JAK2: 2171T>C; I724T; rs372254348
PubMed Link: 27534895
Variant Present in the following documents:
  • ncomms12475-s2.xlsx, sheet 1
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: JAK2: I724T
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page