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@jax.org

Gene JAK2
Variant N542_E543del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions JAK2 N542_E543del is an exon 12 deletion that results in the deletion of two amino acids of the Jak2 protein from amino acids 542 to 543 (PMID: 17267906). N542_E543del confers a gain of function to the Jak2 protein as demonstrated by increased proliferation, Jak2 phosphorylation, and downstream Stat5 phosphorylation (PMID: 17267906).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 N542_E543del

JAK2 mutant JAK2 exon12 JAK2 N542_E543del

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.5070035_5070040delAATGAA
cDNA c.1624_1629delAATGAA
Protein p.N542_E543delNE
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194.1 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_001322198.1 chr9:g.5090523_5090528delCGGATA c.1624_1629delCGGATA p.R542_I543delRI RefSeq GRCh38/hg38
NM_001322199.2 chr9:g.5090523_5090528delCGGATA c.1624_1629delCGGATA p.R542_I543delRI RefSeq GRCh38/hg38
NM_001322194 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_001322204 chr9:g.5078384_5078389delAATCCT c.1624_1629delAATCCT p.N542_P543delNP RefSeq GRCh38/hg38
NM_001322199.1 chr9:g.5090523_5090528delCGGATA c.1624_1629delCGGATA p.R542_I543delRI RefSeq GRCh38/hg38
NM_001322196 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_004972 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_001322204.1 chr9:g.5078384_5078389delAATCCT c.1624_1629delAATCCT p.N542_P543delNP RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_001322195 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_001322198.2 chr9:g.5090523_5090528delCGGATA c.1624_1629delCGGATA p.R542_I543delRI RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE RefSeq GRCh38/hg38
NM_001322204.2 chr9:g.5078384_5078389delAATCCT c.1624_1629delAATCCT p.N542_P543delNP RefSeq GRCh38/hg38
NM_001322198 chr9:g.5090523_5090528delCGGATA c.1624_1629delCGGATA p.R542_I543delRI RefSeq GRCh38/hg38
NM_001322199 chr9:g.5090523_5090528delCGGATA c.1624_1629delCGGATA p.R542_I543delRI RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5070035_5070040delAATGAA c.1624_1629delAATGAA p.N542_E543delNE 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