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Gene JAK2
Variant G417S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 G417S lies within the atypical SH2 domain of the Jak2 protein (UniProt.org). G417S has been identified in sequencing studies (PMID: 30811597), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Mar 2024).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 G417S

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Transcript NM_004972.4
gDNA chr9:g.5066712G>A
cDNA c.1249G>A
Protein p.G417S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004972.4 chr9:g.5066712G>A c.1249G>A p.G417S RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5066712G>A c.1249G>A p.G417S RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5066712G>A c.1249G>A p.G417S RefSeq GRCh38/hg38
NM_001322195 chr9:g.5066712G>A c.1249G>A p.G417S RefSeq GRCh38/hg38
NM_001322196 chr9:g.5066712G>A c.1249G>A p.G417S RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5066712G>A c.1249G>A p.G417S RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5066712G>A c.1249G>A p.G417S RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5066712G>A c.1249G>A p.G417S RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5066712G>A c.1249G>A p.G417S RefSeq GRCh38/hg38
NM_004972 chr9:g.5066712G>A c.1249G>A p.G417S RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5066712G>A c.1249G>A p.G417S RefSeq GRCh38/hg38
NM_001322194 chr9:g.5066712G>A c.1249G>A p.G417S 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References