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Gene JAK2
Variant R588M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 R588M lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). The functional effect of R588M is conflicting, as it demonstrates autophosphorylation and activation of Stat5, Erk, and Akt to similar levels of wild-type Jak2, but has increased kinase activity in an in vitro kinase assay and is transforming in cell culture (PMID: 19638629), and therefore, its effect on Jak2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 R588M

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Transcript NM_004972.4
gDNA chr9:g.5072613_5072614delGAinsTG
cDNA c.1763_1764delGAinsTG
Protein p.R588M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004972.4 chr9:g.5072613_5072614delGAinsTG c.1763_1764delGAinsTG p.R588M RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5072613_5072614delGAinsTG c.1763_1764delGAinsTG p.R588M RefSeq GRCh38/hg38
NM_001322195 chr9:g.5072613_5072614delGAinsTG c.1763_1764delGAinsTG p.R588M RefSeq GRCh38/hg38
NM_004972 chr9:g.5072613_5072614delGAinsTG c.1763_1764delGAinsTG p.R588M RefSeq GRCh38/hg38
NM_001322196 chr9:g.5072613_5072614delGAinsTG c.1763_1764delGAinsTG p.R588M RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5072613_5072614delGAinsTG c.1763_1764delGAinsTG p.R588M RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5072613_5072614delGAinsTG c.1763_1764delGAinsTG p.R588M RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5072613_5072614delGAinsTG c.1763_1764delGAinsTG p.R588M RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5072613_5072614delGAinsTG c.1763_1764delGAinsTG p.R588M RefSeq GRCh38/hg38
NM_001322194 chr9:g.5072613_5072614delGAinsTG c.1763_1764delGAinsTG p.R588M RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5072613_5072614delGAinsTG c.1763_1764delGAinsTG p.R588M RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5072613_5072614delGAinsTG c.1763_1764delGAinsTG p.R588M RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References