JAK2 G571S
Gene Variant Detail

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Gene JAK2
Variant G571S
Impact List missense
Protein Effect no effect
Gene Variant Descriptions JAK2 G571S lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). G571S retains the ability to induce Akt phosphorylation (PMID: 30967616), but results in cell viability similar to wild-type Jak2 and does not induce ligand-independent JAK2-STAT5 signaling (PMID: 26423830) or cytokine-independent growth in culture (PMID: 30967616).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 G571S

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Transcript NM_004972.4
gDNA chr9:g.5072561G>A
cDNA c.1711G>A
Protein p.G571S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194.2 chr9:g.5072561G>A c.1711G>A p.G571S RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5072561G>A c.1711G>A p.G571S RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5072561G>A c.1711G>A p.G571S RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5072561G>A c.1711G>A p.G571S RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5072561G>A c.1711G>A p.G571S RefSeq GRCh38/hg38
NM_001322195 chr9:g.5072561G>A c.1711G>A p.G571S RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5072561G>A c.1711G>A p.G571S RefSeq GRCh38/hg38
NM_001322196 chr9:g.5072561G>A c.1711G>A p.G571S RefSeq GRCh38/hg38
NM_004972 chr9:g.5072561G>A c.1711G>A p.G571S RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5072561G>A c.1711G>A p.G571S RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5072561G>A c.1711G>A p.G571S RefSeq GRCh38/hg38
NM_001322194 chr9:g.5072561G>A c.1711G>A p.G571S 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