JAK2 c.1629A>T ;(p.E543D)

Variant ID: 9-5070040-A-T

NM_004972.3(JAK2):c.1629A>T;(p.E543D)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


A Broad Overview of Signaling in Ph-Negative Classic Myeloproliferative Neoplasms.

Cancers
Guijarro-Hernández, Ana A; Vizmanos, José Luis JL
Publication Date: 2021-02-26

Variant appearance in text: JAK2: E543D
PubMed Link: 33652860
Variant Present in the following documents:
  • cancers-13-00984.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: 1629A>T; Glu543Asp
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s2.xlsx, sheet 9
View BVdb publication page



Myeloproliferative neoplasms and the JAK/STAT signaling pathway: an overview.

Revista Brasileira De Hematologia E Hemoterapia
de Freitas, Renata Mendes RM; da Costa Maranduba, Carlos Magno CM
Publication Date: 2015

Variant appearance in text: JAK2: E543D
PubMed Link: 26408371
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



A JAK2 interdomain linker relays Epo receptor engagement signals to kinase activation.

The Journal Of Biological Chemistry
Zhao, Lequn L; Dong, Hongyun H; Zhang, Cheng Cheng CC; Kinch, Lisa L; Osawa, Mitsujiro M; Iacovino, Michelina M; Grishin, Nikolai V NV; Kyba, Michael M; Huang, Lily Jun-shen LJ
Publication Date: 2009-09-25

Variant appearance in text: JAK2: E543D
PubMed Link: 19638629
Variant Present in the following documents:
  • Main text
View BVdb publication page