JAK2 c.2485G>A ;(p.A829T)

Variant ID: 9-5081775-G-A

NM_004972.3(JAK2):c.2485G>A;(p.A829T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.

Nature Medicine
Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW
Publication Date: 2023-03-16

Variant appearance in text: JAK2: A829T
PubMed Link: 36928815
Variant Present in the following documents:
  • 41591_2023_2255_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



Direct molecular evidence for both multicentric and monoclonal carcinogenesis followed by transdifferentiation from hepatocellular carcinoma to cholangiocarcinoma in a case of metachronous liver cancer.

Oncology Letters
Ohni, Sumie S; Yamaguchi, Hiromi H; Hirotani, Yukari Y; Nakanishi, Yoko Y; Midorikawa, Yutaka Y; Sugitani, Masahiko M; Naruse, Hiromu H; Nakayama, Tomohiro T; Makishima, Makoto M; Esumi, Mariko M
Publication Date: 2022-01

Variant appearance in text: JAK2: Ala829Thr
PubMed Link: 34868359
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 3
  • Supplementary_Data2.xlsx, sheet 2
View BVdb publication page