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Gene JAK2
Variant L393V
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 L393V lies within a linker region of the Jak2 protein (PMID: 29685781). L393V confers a gain of function to the Jak2 protein, as demonstrated by increased transcriptional activity of Stat1, 3, and 5, and increased ligand-dependent cell viability as compared to wild-type Jak2 in culture (PMID: 27647865).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 L393V

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Transcript NM_004972.4
gDNA chr9:g.5065003C>G
cDNA c.1177C>G
Protein p.L393V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195 chr9:g.5065003C>G c.1177C>G p.L393V RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5065003C>G c.1177C>G p.L393V RefSeq GRCh38/hg38
NM_001322196 chr9:g.5065003C>G c.1177C>G p.L393V RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5065003C>G c.1177C>G p.L393V RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5065003C>G c.1177C>G p.L393V RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5065003C>G c.1177C>G p.L393V RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5065003C>G c.1177C>G p.L393V RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5065003C>G c.1177C>G p.L393V RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5065003C>G c.1177C>G p.L393V RefSeq GRCh38/hg38
NM_001322194 chr9:g.5065003C>G c.1177C>G p.L393V RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5065003C>G c.1177C>G p.L393V RefSeq GRCh38/hg38
NM_004972 chr9:g.5065003C>G c.1177C>G p.L393V 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