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Gene JAK2
Variant M483R
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK2 M483R lies within the atypical SH2 domain of the Jak2 protein (PMID: 26419724). M483R results in transformation of cells in culture (PMID: 26419724), and therefore, is predicted to lead to a gain of Jak2 protein function.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 M483R

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Transcript NM_004972.4
gDNA chr9:g.5069143T>G
cDNA c.1448T>G
Protein p.M483R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194.1 chr9:g.5069143T>G c.1448T>G p.M483R RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5069143T>G c.1448T>G p.M483R RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5069143T>G c.1448T>G p.M483R RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5069143T>G c.1448T>G p.M483R RefSeq GRCh38/hg38
NM_001322194 chr9:g.5069143T>G c.1448T>G p.M483R RefSeq GRCh38/hg38
NM_004972 chr9:g.5069143T>G c.1448T>G p.M483R RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5069143T>G c.1448T>G p.M483R RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5069143T>G c.1448T>G p.M483R RefSeq GRCh38/hg38
NM_001322195 chr9:g.5069143T>G c.1448T>G p.M483R RefSeq GRCh38/hg38
NM_001322196 chr9:g.5069143T>G c.1448T>G p.M483R RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5069143T>G c.1448T>G p.M483R RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5069143T>G c.1448T>G p.M483R RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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")

Sorting

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