JAK2 c.2893G>T ;(p.E965*)

Variant ID: 9-5090745-G-T

NM_004972.3(JAK2):c.2893G>T;(p.E965*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Evolution of late-stage metastatic melanoma is dominated by aneuploidy and whole genome doubling.

Nature Communications
Vergara, Ismael A IA; Mintoff, Christopher P CP; Sandhu, Shahneen S; McIntosh, Lachlan L; Young, Richard J RJ; Wong, Stephen Q SQ; Colebatch, Andrew A; Cameron, Daniel L DL; Kwon, Julia Lai JL; Wolfe, Rory R; Peng, Angela A; Ellul, Jason J; Dou, Xuelin X; Fedele, Clare C; Boyle, Samantha S; Arnau, Gisela Mir GM; Raleigh, Jeanette J; Hatzimihalis, Athena A; Szeto, Pacman P; Mooi, Jennifer J; Widmer, Daniel S DS; Cheng, Phil F PF; Amann, Valerie V; Dummer, Reinhard R; Hayward, Nicholas N; Wilmott, James J; Scolyer, Richard A RA; Cho, Raymond J RJ; Bowtell, David D; Thorne, Heather H; Alsop, Kathryn K; Cordner, Stephen S; Woodford, Noel N; Leditschke, Jodie J; O'Brien, Patricia P; Dawson, Sarah-Jane SJ; McArthur, Grant A GA; Mann, Graham J GJ; Levesque, Mitchell P MP; Papenfuss, Anthony T AT; Shackleton, Mark M
Publication Date: 2021-03-04

Variant appearance in text: JAK2: Glu965Ter
PubMed Link: 33664264
Variant Present in the following documents:
  • 41467_2021_21576_MOESM1_ESM.pdf
View BVdb publication page



Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.

Nature Communications
Mitchell, Khadijah A KA; Nichols, Noah N; Tang, Wei W; Walling, Jennifer J; Stevenson, Holly H; Pineda, Marbin M; Stefanescu, Roxana R; Edelman, Daniel C DC; Girvin, Andrew T AT; Zingone, Adriana A; Sinha, Sanju S; Bowman, Elise E; Rossi, Emily L EL; Arauz, Rony F RF; Jack Zhu, Yuelin Y; Lack, Justin J; Weingartner, Elizabeth E; Waterfall, Joshua J JJ; Pine, Sharon R SR; Simmons, John J; Meltzer, Paul P; Ryan, BrĂ­d M BM
Publication Date: 2019-12-16

Variant appearance in text: JAK2: E965*
PubMed Link: 31844068
Variant Present in the following documents:
  • 41467_2019_13732_MOESM7_ESM.xlsx, sheet 1
  • 41467_2019_13732_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page