JAK2 c.1558G>A ;(p.V520I)

Variant ID: 9-5069969-G-A

NM_004972.3(JAK2):c.1558G>A;(p.V520I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Epigenomic charting and functional annotation of risk loci in renal cell carcinoma.

Nature Communications
Nassar, Amin H AH; Abou Alaiwi, Sarah S; Baca, Sylvan C SC; Adib, Elio E; Corona, Rosario I RI; Seo, Ji-Heui JH; Fonseca, Marcos A S MAS; Spisak, Sandor S; El Zarif, Talal T; Tisza, Viktoria V; Braun, David A DA; Du, Heng H; He, Monica M; Flaifel, Abdallah A; Alchoueiry, Michel M; Denize, Thomas T; Matar, Sayed G SG; Acosta, Andres A; Shukla, Sachet S; Hou, Yue Y; Steinharter, John J; Bouchard, Gabrielle G; Berchuck, Jacob E JE; O'Connor, Edward E; Bell, Connor C; Nuzzo, Pier Vitale PV; Mary Lee, Gwo-Shu GS; Signoretti, Sabina S; Hirsch, Michelle S MS; Pomerantz, Mark M; Henske, Elizabeth E; Gusev, Alexander A; Lawrenson, Kate K; Choueiri, Toni K TK; Kwiatkowski, David J DJ; Freedman, Matthew L ML
Publication Date: 2023-01-21

Variant appearance in text: JAK2: 1558G>A; V520I
PubMed Link: 36681680
Variant Present in the following documents:
  • 41467_2023_35833_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



The longitudinal dynamics and natural history of clonal haematopoiesis.

Nature
Fabre, Margarete A MA; de Almeida, José Guilherme JG; Fiorillo, Edoardo E; Mitchell, Emily E; Damaskou, Aristi A; Rak, Justyna J; Orrù, Valeria V; Marongiu, Michele M; Chapman, Michael Spencer MS; Vijayabaskar, M S MS; Baxter, Joanna J; Hardy, Claire C; Abascal, Federico F; Williams, Nicholas N; Nangalia, Jyoti J; Martincorena, Iñigo I; Campbell, Peter J PJ; McKinney, Eoin F EF; Cucca, Francesco F; Gerstung, Moritz M; Vassiliou, George S GS
Publication Date: 2022-06

Variant appearance in text: JAK2: V520I
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Nature Communications
Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK
Publication Date: 2021-02-05

Variant appearance in text: JAK2: 1558G>A; V520I
PubMed Link: 33547292
Variant Present in the following documents:
  • 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page