JAK2 H538L - Gene Variant Detail

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Gene JAK2
Variant H538L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 H538L does not lie within any known functional domains of the Jak2 protein (UniProt.org). H538L confers a gain of function to the Jak2 protein as demonstrated by increased Jak2 autophosphorylation and transformation of cells in culture (PMID: 19638629).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 H538L

JAK2 mutant JAK2 exon12 JAK2 H538L

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Transcript NM_004972.4
gDNA chr9:g.5070024A>T
cDNA c.1613A>T
Protein p.H538L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195.2 chr9:g.5070024A>T c.1613A>T p.H538L RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5070024A>T c.1613A>T p.H538L RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5070024A>T c.1613A>T p.H538L RefSeq GRCh38/hg38
NM_001322194 chr9:g.5070024A>T c.1613A>T p.H538L RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5070024A>T c.1613A>T p.H538L RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5070024A>T c.1613A>T p.H538L RefSeq GRCh38/hg38
NM_004972 chr9:g.5070024A>T c.1613A>T p.H538L RefSeq GRCh38/hg38
NM_001322195 chr9:g.5070024A>T c.1613A>T p.H538L RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5070024A>T c.1613A>T p.H538L RefSeq GRCh38/hg38
NM_001322196 chr9:g.5070024A>T c.1613A>T p.H538L RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5070024A>T c.1613A>T p.H538L RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5070024A>T c.1613A>T p.H538L 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References