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Gene JAK2
Variant P933R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 P933R lies within the protein kinase domain 2 of the Jak2 protein (UniProt.org). P933R results in increased Jak2 phosphorylation in cell culture (PMID: 24918548), and the corresponding mouse variant (P933R) results in increased Jak2 and Stat5 phosphorylation, and transformation of cells in culture (PMID: 19470474).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 P933R

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Transcript NM_004972.4
gDNA chr9:g.5090482C>G
cDNA c.2798C>G
Protein p.P933R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195 chr9:g.5090482C>G c.2798C>G p.P933R RefSeq GRCh38/hg38
NM_001322196 chr9:g.5090482C>G c.2798C>G p.P933R RefSeq GRCh38/hg38
NM_001322194 chr9:g.5090482C>G c.2798C>G p.P933R RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5090482C>G c.2798C>G p.P933R RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5090482C>G c.2798C>G p.P933R RefSeq GRCh38/hg38
NM_004972 chr9:g.5090482C>G c.2798C>G p.P933R RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5090482C>G c.2798C>G p.P933R RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5090482C>G c.2798C>G p.P933R RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5090482C>G c.2798C>G p.P933R RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5090482C>G c.2798C>G p.P933R RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5090482C>G c.2798C>G p.P933R RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5090482C>G c.2798C>G p.P933R RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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