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Gene JAK2
Variant G48E
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 G48E lies within the FERM domain of the Jak2 protein (UniProt.org). G48E has been identified in sequencing studies (PMID: 30811597, PMID: 25801821), 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 G48E

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Transcript NM_004972.4
gDNA chr9:g.5022130G>A
cDNA c.143G>A
Protein p.G48E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196.1 chr9:g.5022130G>A c.143G>A p.G48E RefSeq GRCh38/hg38
NM_001322195 chr9:g.5022130G>A c.143G>A p.G48E RefSeq GRCh38/hg38
NM_001322196 chr9:g.5022130G>A c.143G>A p.G48E RefSeq GRCh38/hg38
NM_004972 chr9:g.5022130G>A c.143G>A p.G48E RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5022130G>A c.143G>A p.G48E RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5022130G>A c.143G>A p.G48E RefSeq GRCh38/hg38
NM_001322194 chr9:g.5022130G>A c.143G>A p.G48E RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5022130G>A c.143G>A p.G48E RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5022130G>A c.143G>A p.G48E RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5022130G>A c.143G>A p.G48E RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5022130G>A c.143G>A p.G48E RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5022130G>A c.143G>A p.G48E 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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  • Click on any column header arrows to sort by that column
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries