Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene JAK2
Variant K539I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 K539I does not lie within any known functional domains of the Jak2 protein (Uniprot.org). K539I confers a gain of function to the Jak2 protein as demonstrated by increased kinase activity, activation of Stat5, Erk, and Akt, and is transforming in cell culture (PMID: 19638629).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 K539I

JAK2 mutant JAK2 exon12 JAK2 K539I

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 )
  • 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

  • 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.

Transcript NM_004972.4
gDNA chr9:g.5070027A>T
cDNA c.1616A>T
Protein p.K539I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194.2 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_001322204 chr9:g.5078376_5078377delAGinsTC c.1616_1617delAGinsTC p.K539I RefSeq GRCh38/hg38
NM_001322204.2 chr9:g.5078376_5078377delAGinsTC c.1616_1617delAGinsTC p.K539I RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_001322196 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_001322204.1 chr9:g.5078376_5078377delAGinsTC c.1616_1617delAGinsTC p.K539I RefSeq GRCh38/hg38
NM_004972 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_001322195 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_001322194 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5070027A>T c.1616A>T p.K539I RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5070027A>T c.1616A>T p.K539I 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 )
  • 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

  • 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References