JAK2 c.2438A>T ;(p.Y813F)

Variant ID: 9-5081728-A-T

NM_004972.3(JAK2):c.2438A>T;(p.Y813F)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Clonal dynamics of haematopoiesis across the human lifespan.

Nature
Mitchell, Emily E; Spencer Chapman, Michael M; Williams, Nicholas N; Dawson, Kevin J KJ; Mende, Nicole N; Calderbank, Emily F EF; Jung, Hyunchul H; Mitchell, Thomas T; Coorens, Tim H H THH; Spencer, David H DH; Machado, Heather H; Lee-Six, Henry H; Davies, Megan M; Hayler, Daniel D; Fabre, Margarete A MA; Mahbubani, Krishnaa K; Abascal, Federico F; Cagan, Alex A; Vassiliou, George S GS; Baxter, Joanna J; Martincorena, Inigo I; Stratton, Michael R MR; Kent, David G DG; Chatterjee, Krishna K; Parsy, Kourosh Saeb KS; Green, Anthony R AR; Nangalia, Jyoti J; Laurenti, Elisa E; Campbell, Peter J PJ
Publication Date: 2022-06

Variant appearance in text: JAK2: Y813F
PubMed Link: 35650442
Variant Present in the following documents:
  • 41586_2022_4786_MOESM9_ESM.xlsx, sheet 1
  • 41586_2022_4786_MOESM11_ESM.xlsx, sheet 1
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PTPRJ Inhibits Leptin Signaling, and Induction of PTPRJ in the Hypothalamus Is a Cause of the Development of Leptin Resistance.

Scientific Reports
Shintani, Takafumi T; Higashi, Satoru S; Suzuki, Ryoko R; Takeuchi, Yasushi Y; Ikaga, Reina R; Yamazaki, Tomomi T; Kobayashi, Kenta K; Noda, Masaharu M
Publication Date: 2017-09-14

Variant appearance in text: JAK2: Y813F
PubMed Link: 28912580
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_12070.pdf
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Lnk constrains myeloproliferative diseases in mice.

The Journal Of Clinical Investigation
Bersenev, Alexey A; Wu, Chao C; Balcerek, Joanna J; Jing, Jiang J; Kundu, Mondira M; Blobel, Gerd A GA; Chikwava, Kudakwashe R KR; Tong, Wei W
Publication Date: 2010-06

Variant appearance in text: JAK2: Y813F
PubMed Link: 20458146
Variant Present in the following documents:
  • Main text
View BVdb publication page



A bipolar clamp mechanism for activation of Jak-family protein tyrosine kinases.

Plos Computational Biology
Barua, Dipak D; Faeder, James R JR; Haugh, Jason M JM
Publication Date: 2009-04

Variant appearance in text: JAK2: Y813F
PubMed Link: 19381268
Variant Present in the following documents:
  • pcbi.1000364.pdf
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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: Y813F
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: Y813F
PubMed Link: 18160720
Variant Present in the following documents:
  • Main text
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Binding of SH2-B family members within a potential negative regulatory region maintains JAK2 in an active state.

Molecular And Cellular Biology
Kurzer, Jason H JH; Saharinen, Pipsa P; Silvennoinen, Olli O; Carter-Su, Christin C
Publication Date: 2006-09

Variant appearance in text: JAK2: Y813F
PubMed Link: 16914724
Variant Present in the following documents:
  • Main text
View BVdb publication page



Kinase activation through dimerization by human SH2-B.

Molecular And Cellular Biology
Nishi, Masahiro M; Werner, Eric D ED; Oh, Byung-Chul BC; Frantz, J Daniel JD; Dhe-Paganon, Sirano S; Hansen, Lone L; Lee, Jongsoon J; Shoelson, Steven E SE
Publication Date: 2005-04

Variant appearance in text: JAK2: Y813F
PubMed Link: 15767667
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tyrosine 813 is a site of JAK2 autophosphorylation critical for activation of JAK2 by SH2-B beta.

Molecular And Cellular Biology
Kurzer, Jason H JH; Argetsinger, Lawrence S LS; Zhou, Yong-Jie YJ; Kouadio, Jean-Louis K JL; O'Shea, John J JJ; Carter-Su, Christin C
Publication Date: 2004-05

Variant appearance in text: JAK2: Y813F
PubMed Link: 15121872
Variant Present in the following documents:
  • Main text
View BVdb publication page