JAK2 R277K
Gene Variant Detail

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Gene JAK2
Variant R277K
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK2 R277K lies within the FERM domain of the Jak2 protein (UniProt.org). R277K results in transformation of cells in culture (PMID: 26419724), and therefore, is predicted to lead to a gain of Jak2 protein function.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 R277K

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Transcript NM_001322204.2
gDNA chr9:g.5066739_5066740delCGinsAA
cDNA c.829_830delCGinsAA
Protein p.R277K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322204 chr9:g.5066739_5066740delCGinsAA c.829_830delCGinsAA p.R277K RefSeq GRCh38/hg38
NM_001322204.2 chr9:g.5066739_5066740delCGinsAA c.829_830delCGinsAA p.R277K RefSeq GRCh38/hg38
NM_001322204.1 chr9:g.5066739_5066740delCGinsAA c.829_830delCGinsAA p.R277K 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 )
  • 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")

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