Description
JAK2 is a kinase that is misregulated or mutated in a number of myeloproliferative diseases and cancers. The mutation V617F is the most clinically relevant variant, and is seen in around half of myeloproliferative disorders. The variant is a known activating mutation, and activated JAK2 is sufficient to drive myeloproliferative disorders in mouse models. V617F, while most recurrent, is not the only mechanism by which JAK2 can be activated in patients. JAK2 is now one of the first diagnostic markers tested upon diagnosis with a myeloproliferative disorder.
Cyan = gene · Slate = variant · Green = drug · Click variant to filter table
Variants (4)
| CIViC ID | Name | HGVS | Type(s) |
|---|---|---|---|
| 2587 | F694L | ||
| 1681 | Splice Site (c.1641+2T>G) F547 SPLICE SITE MUTATION,(C.1641+2T>G) F547 SPLICE SITE | NC_000009.11:g.5070054T>G,NM_004972.3:c.1641+2T>G,NP_004963.1:p.= | splice_donor_variant |
| 64 | V617F VAL617PHE,RS77375493 | NC_000009.11:g.5073770G>T,NM_004972.3:c.1849G>T,NP_004963.1:p.Val617Phe,ENST00000381652.3:c.1849G>T | missense_variant,gain_of_function_variant |
| 615 | c.1641+1dup | NC_000009.11:g.5070053_5070054insG |