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Gene | JAK2 |
Variant | V617I |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK2 V617I lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). V617I results in increased kinase activity through Jak2 autophosphorylation (PMID: 19638629) and increased proliferation of myeloid progenitors and increased ligand-dependent phosphorylation of Stat5 in a mouse model (PMID: 26458983). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 act mut JAK2 V617I |
Transcript | NM_004972.4 |
gDNA | chr9:g.5073770G>A |
cDNA | c.1849G>A |
Protein | p.V617I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004972.4 | chr9:g.5073770G>A | c.1849G>A | p.V617I | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5073770G>A | c.1849G>A | p.V617I | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5073770G>A | c.1849G>A | p.V617I | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5073770G>A | c.1849G>A | p.V617I | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5073770G>A | c.1849G>A | p.V617I | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5073770G>A | c.1849G>A | p.V617I | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5073770G>A | c.1849G>A | p.V617I | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5073770G>A | c.1849G>A | p.V617I | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5073770G>A | c.1849G>A | p.V617I | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5073770G>A | c.1849G>A | p.V617I | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5073770G>A | c.1849G>A | p.V617I | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5073770G>A | c.1849G>A | p.V617I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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