JAK2 c.1613A>T ;(p.H538L)

Variant ID: 9-5070024-A-T

NM_004972.3(JAK2):c.1613A>T;(p.H538L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mechanism of homodimeric cytokine receptor activation and dysregulation by oncogenic mutations.

Science (New York, N.Y.)
Wilmes, Stephan S; Hafer, Maximillian M; Vuorio, Joni J; Tucker, Julie A JA; Winkelmann, Hauke H; Löchte, Sara S; Stanly, Tess A TA; Pulgar Prieto, Katiuska D KD; Poojari, Chetan C; Sharma, Vivek V; Richter, Christian P CP; Kurre, Rainer R; Hubbard, Stevan R SR; Garcia, K Christopher KC; Moraga, Ignacio I; Vattulainen, Ilpo I; Hitchcock, Ian S IS; Piehler, Jacob J
Publication Date: 2020-02-07

Variant appearance in text: JAK2: H538L
PubMed Link: 32029621
Variant Present in the following documents:
  • Main text
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: H538L
PubMed Link: 19638629
Variant Present in the following documents:
  • Main text
View BVdb publication page