JAK2 Y317H - Gene Variant Detail

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Gene JAK2
Variant Y317H
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 Y317H lies within the FERM domain of the Jak2 protein (UniProt.org). Y317H confers a gain of function to the Jak2 protein as demonstrated by increased cytokine-dependent activation of Stat3, Stat5, and Akt, and is transforming in cell culture (PMID: 28473624).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 Y317H

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Transcript NM_004972.4
gDNA chr9:g.5055681T>C
cDNA c.949T>C
Protein p.Y317H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196.1 chr9:g.5055681T>C c.949T>C p.Y317H RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5055681T>C c.949T>C p.Y317H RefSeq GRCh38/hg38
NM_001322195 chr9:g.5055681T>C c.949T>C p.Y317H RefSeq GRCh38/hg38
NM_004972 chr9:g.5055681T>C c.949T>C p.Y317H RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5055681T>C c.949T>C p.Y317H RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5055681T>C c.949T>C p.Y317H RefSeq GRCh38/hg38
NM_001322194 chr9:g.5055681T>C c.949T>C p.Y317H RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5055681T>C c.949T>C p.Y317H RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5055681T>C c.949T>C p.Y317H RefSeq GRCh38/hg38
NM_001322196 chr9:g.5055681T>C c.949T>C p.Y317H RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5055681T>C c.949T>C p.Y317H RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5055681T>C c.949T>C p.Y317H 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • 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