JAK2 N533I
Gene Variant Detail

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Gene JAK2
Variant N533I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 N533I lies within a linker region of the Jak2 protein (PMID: 29685781). N533I has been identified in the scientific literature (PMID: 37834019), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Feb 2025).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 exon12 JAK2 N533I

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Transcript NM_004972.4
gDNA chr9:g.5070009A>T
cDNA c.1598A>T
Protein p.N533I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195 chr9:g.5070009A>T c.1598A>T p.N533I RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5070009A>T c.1598A>T p.N533I RefSeq GRCh38/hg38
NM_004972 chr9:g.5070009A>T c.1598A>T p.N533I RefSeq GRCh38/hg38
NM_001322196 chr9:g.5070009A>T c.1598A>T p.N533I RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5070009A>T c.1598A>T p.N533I RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5070009A>T c.1598A>T p.N533I RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5070009A>T c.1598A>T p.N533I RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5070009A>T c.1598A>T p.N533I RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5070009A>T c.1598A>T p.N533I RefSeq GRCh38/hg38
NM_001322194 chr9:g.5070009A>T c.1598A>T p.N533I RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5070009A>T c.1598A>T p.N533I RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5070009A>T c.1598A>T p.N533I 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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Sorting

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