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Gene JAK2
Variant E1012*
Impact List nonsense
Protein Effect unknown
Gene Variant Descriptions JAK2 E1012* results in a premature truncation of the Jak2 protein at amino acid 1012 of 1132 (UniProt.org). E1012* has not been characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, May 2024).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 E1012*

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Transcript NM_004972.4
gDNA chr9:g.5090886G>T
cDNA c.3034G>T
Protein p.E1012*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196.1 chr9:g.5090886G>T c.3034G>T p.E1012* RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5090886G>T c.3034G>T p.E1012* RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5090886G>T c.3034G>T p.E1012* RefSeq GRCh38/hg38
NM_001322196 chr9:g.5090886G>T c.3034G>T p.E1012* RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5090886G>T c.3034G>T p.E1012* RefSeq GRCh38/hg38
NM_001322194 chr9:g.5090886G>T c.3034G>T p.E1012* RefSeq GRCh38/hg38
NM_004972 chr9:g.5090886G>T c.3034G>T p.E1012* RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5090886G>T c.3034G>T p.E1012* RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5090886G>T c.3034G>T p.E1012* RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5090886G>T c.3034G>T p.E1012* RefSeq GRCh38/hg38
NM_001322195 chr9:g.5090886G>T c.3034G>T p.E1012* RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5090886G>T c.3034G>T p.E1012* 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References