JAK2 E818*
Gene Variant Detail

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Gene JAK2
Variant E818*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions JAK2 E818* results in a premature truncation of the Jak2 protein at amino acid 818 of 1132 (UniProt.org). Due to the loss of protein kinase domain 2 (UniProt.org), E818* is predicted to lead to a loss of Jak2 protein function.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 inact mut JAK2 E818*

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Transcript NM_004972.4
gDNA chr9:g.5081742G>T
cDNA c.2452G>T
Protein p.E818*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194 chr9:g.5081742G>T c.2452G>T p.E818* RefSeq GRCh38/hg38
NM_001322196 chr9:g.5081742G>T c.2452G>T p.E818* RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5081742G>T c.2452G>T p.E818* RefSeq GRCh38/hg38
NM_001322195 chr9:g.5081742G>T c.2452G>T p.E818* RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5081742G>T c.2452G>T p.E818* RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5081742G>T c.2452G>T p.E818* RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5081742G>T c.2452G>T p.E818* RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5081742G>T c.2452G>T p.E818* RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5081742G>T c.2452G>T p.E818* RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5081742G>T c.2452G>T p.E818* RefSeq GRCh38/hg38
NM_004972 chr9:g.5081742G>T c.2452G>T p.E818* RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5081742G>T c.2452G>T p.E818* 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References