JAK2 c.1838A>T ;(p.Y613F)

Variant ID: 9-5073759-A-T

NM_004972.3(JAK2):c.1838A>T;(p.Y613F)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Competitive binding of STATs to receptor phospho-Tyr motifs accounts for altered cytokine responses.

Elife
Wilmes, Stephan S; Jeffrey, Polly-Anne PA; Martinez-Fabregas, Jonathan J; Hafer, Maximillian M; Fyfe, Paul K PK; Pohler, Elizabeth E; Gaggero, Silvia S; López-García, Martín M; Lythe, Grant G; Taylor, Charles C; Guerrier, Thomas T; Launay, David D; Mitra, Suman S; Piehler, Jacob J; Molina-París, Carmen C; Moraga, Ignacio I
Publication Date: 2021-04-19

Variant appearance in text: JAK2: Y613F
PubMed Link: 33871355
Variant Present in the following documents:
  • elife-66014.pdf
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: JAK2: 1838A>T; Tyr613Phe
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s1.xlsx, sheet 9
  • bty518_supplementary_data_s3.xlsx, sheet 9
  • bty518_supplementary_data_s4.xlsx, sheet 9
View BVdb publication page



Activation of JAK2-V617F by components of heterodimeric cytokine receptors.

The Journal Of Biological Chemistry
Pradhan, Anuradha A; Lambert, Que T QT; Griner, Lori N LN; Reuther, Gary W GW
Publication Date: 2010-05-28

Variant appearance in text: JAK2: Y613F
PubMed Link: 20363735
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lnk controls mouse hematopoietic stem cell self-renewal and quiescence through direct interactions with JAK2.

The Journal Of Clinical Investigation
Bersenev, Alexey A; Wu, Chao C; Balcerek, Joanna J; Tong, Wei W
Publication Date: 2008-08

Variant appearance in text: JAK2: Y613F
PubMed Link: 18618018
Variant Present in the following documents:
  • Main text
View BVdb publication page



Jak2 FERM domain interaction with the erythropoietin receptor regulates Jak2 kinase activity.

Molecular And Cellular Biology
Funakoshi-Tago, Megumi M; Pelletier, Stéphane S; Moritake, Hiroshi H; Parganas, Evan E; Ihle, James N JN
Publication Date: 2008-03

Variant appearance in text: JAK2: Y613F
PubMed Link: 18160720
Variant Present in the following documents:
  • Main text
View BVdb publication page