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Gene JAK2
Variant E274*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions JAK2 E274* results in a premature truncation of the Jak2 protein at amino acid 274 of 1132 (UniProt.org). Due to the loss of the protein kinase domains (UniProt.org), E274* is predicted to lead to a loss of Jak2 protein function.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 inact mut JAK2 E274*

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Transcript NM_004972.4
gDNA chr9:g.5054768G>T
cDNA c.820G>T
Protein p.E274*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195.1 chr9:g.5054768G>T c.820G>T p.E274* RefSeq GRCh38/hg38
NM_004972 chr9:g.5054768G>T c.820G>T p.E274* RefSeq GRCh38/hg38
NM_001322194 chr9:g.5054768G>T c.820G>T p.E274* RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5054768G>T c.820G>T p.E274* RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5054768G>T c.820G>T p.E274* RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5054768G>T c.820G>T p.E274* RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5054768G>T c.820G>T p.E274* RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5054768G>T c.820G>T p.E274* RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5054768G>T c.820G>T p.E274* RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5054768G>T c.820G>T p.E274* RefSeq GRCh38/hg38
NM_001322195 chr9:g.5054768G>T c.820G>T p.E274* RefSeq GRCh38/hg38
NM_001322196 chr9:g.5054768G>T c.820G>T p.E274* 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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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries