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Gene JAK2
Variant E386*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions JAK2 E386* results in a premature truncation of the Jak2 protein at amino acid 386 of 1132 (UniProt.org). Due to the loss of the protein kinase domains (UniProt.org), E386* is predicted to lead to a loss of Jak2 protein function.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 inact mut JAK2 E386*

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Transcript NM_004972.4
gDNA chr9:g.5064982G>T
cDNA c.1156G>T
Protein p.E386*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195 chr9:g.5064982G>T c.1156G>T p.E386* RefSeq GRCh38/hg38
NM_001322198.1 chr9:g.5080620G>T c.1156G>T p.E386* RefSeq GRCh38/hg38
NM_001322199.1 chr9:g.5080620G>T c.1156G>T p.E386* RefSeq GRCh38/hg38
NM_001322196 chr9:g.5064982G>T c.1156G>T p.E386* RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5064982G>T c.1156G>T p.E386* RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5064982G>T c.1156G>T p.E386* RefSeq GRCh38/hg38
NM_001322198 chr9:g.5080620G>T c.1156G>T p.E386* RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5064982G>T c.1156G>T p.E386* RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5064982G>T c.1156G>T p.E386* RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5064982G>T c.1156G>T p.E386* RefSeq GRCh38/hg38
NM_001322198.2 chr9:g.5080620G>T c.1156G>T p.E386* RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5064982G>T c.1156G>T p.E386* RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5064982G>T c.1156G>T p.E386* RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5064982G>T c.1156G>T p.E386* RefSeq GRCh38/hg38
NM_001322199.2 chr9:g.5080620G>T c.1156G>T p.E386* RefSeq GRCh38/hg38
NM_001322199 chr9:g.5080620G>T c.1156G>T p.E386* RefSeq GRCh38/hg38
NM_004972 chr9:g.5064982G>T c.1156G>T p.E386* RefSeq GRCh38/hg38
NM_001322194 chr9:g.5064982G>T c.1156G>T p.E386* 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")

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