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Gene | JAK2 |
Variant | Q656G |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK2 Q656G lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). Q656G disrupts Jak2 autoinhibition and leads to increased enzymatic activity and ATP and Stat5 affinity in in vitro assays, increased cell proliferation, and constitutive Stat5 activation in culture (PMID: 36529225). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 act mut JAK2 Q656G |
Transcript | NM_004972.4 |
gDNA | chr9:g.5077554_5077555delCAinsGG |
cDNA | c.1966_1967delCAinsGG |
Protein | p.Q656G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322194.2 | chr9:g.5077554_5077555delCAinsGG | c.1966_1967delCAinsGG | p.Q656G | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5077554_5077555delCAinsGG | c.1966_1967delCAinsGG | p.Q656G | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5077554_5077555delCAinsGG | c.1966_1967delCAinsGG | p.Q656G | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5077554_5077555delCAinsGG | c.1966_1967delCAinsGG | p.Q656G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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