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Gene | JAK2 |
Variant | Y956F |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | JAK2 Y956F lies within the protein kinase domain 2 of the Jak2 protein (UniProt.org). Y956F results in Epo-induced activation of Jak2 and cytokine-induced colony formation similar to wild-type Jak2 in culture (PMID: 18160720). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 Y956F |
Transcript | NM_004972.4 |
gDNA | chr9:g.5090551A>T |
cDNA | c.2867A>T |
Protein | p.Y956F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |