Gene Variant Detail

Gene JAK2
Variant E484K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 E484K does not lie within any known functional domains of the Jak2 protein (UniProt.org). E484K has been identified in sequencing studies (PMID: 28028924), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Apr 2019).
Associated Drug Resistance

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Transcript NM_004972
gDNA chr9:g.5069145G>A
cDNA c.1450G>A
Protein p.E484K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196 chr9:g.5069145G>A c.1450G>A p.E484K RefSeq GRCh38/hg38
NM_001322198 chr9:g.5089767G>A c.1450G>A p.E484K RefSeq GRCh38/hg38
NM_001322194 chr9:g.5069145G>A c.1450G>A p.E484K RefSeq GRCh38/hg38
NM_001322199 chr9:g.5089767G>A c.1450G>A p.E484K RefSeq GRCh38/hg38
NM_001322195 chr9:g.5069145G>A c.1450G>A p.E484K RefSeq GRCh38/hg38
NM_004972 chr9:g.5069145G>A c.1450G>A p.E484K RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
JAK2 E484K unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References