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 I540_E543delinsMK
Impact List indel
Protein Effect unknown
Gene Variant Descriptions JAK2 I540_E543delinsMK results in a deletion of four amino acids of the Jak2 protein from amino acids 540 to 543, combined with the insertion of a methionine (M) and a lysine (K) at the same site (UniProt.org). I540_E543delinsMK has been identified in sequencing studies (PMID: 22642932, PMID: 17984312, PMID: 17914411), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 exon12 JAK2 I540_E543delinsMK

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.5070029_5070040delinsATGAAG
cDNA c.1618_1629delinsATGAAG
Protein p.I540_E543delinsMK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195 chr9:g.5070029_5070040delinsATGAAG c.1618_1629delinsATGAAG p.I540_E543delinsMK RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5070029_5070040delinsATGAAG c.1618_1629delinsATGAAG p.I540_E543delinsMK RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5070029_5070040delinsATGAAG c.1618_1629delinsATGAAG p.I540_E543delinsMK RefSeq GRCh38/hg38
NM_001322196 chr9:g.5070029_5070040delinsATGAAG c.1618_1629delinsATGAAG p.I540_E543delinsMK RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5070029_5070040delinsATGAAG c.1618_1629delinsATGAAG p.I540_E543delinsMK RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5070029_5070040delinsATGAAG c.1618_1629delinsATGAAG p.I540_E543delinsMK RefSeq GRCh38/hg38
NM_001322194 chr9:g.5070029_5070040delinsATGAAG c.1618_1629delinsATGAAG p.I540_E543delinsMK RefSeq GRCh38/hg38
NM_004972 chr9:g.5070029_5070040delinsATGAAG c.1618_1629delinsATGAAG p.I540_E543delinsMK RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5070029_5070040delinsATGAAG c.1618_1629delinsATGAAG p.I540_E543delinsMK RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5070029_5070040delinsATGAAG c.1618_1629delinsATGAAG p.I540_E543delinsMK RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5070029_5070040delinsATGAAG c.1618_1629delinsATGAAG p.I540_E543delinsMK RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5070029_5070040delinsATGAAG c.1618_1629delinsATGAAG p.I540_E543delinsMK 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
JAK2 exon12 polycythemia vera not applicable N/A Guideline Diagnostic JAK2 exon 12 mutations aid in the diagnosis of polycythemia vera (NCCN.org). detail...
JAK2 mutant essential thrombocythemia not applicable N/A Guideline Diagnostic JAK2 mutations aid in the diagnosis of essential thrombocythemia (NCCN.org). detail...
JAK2 mutant B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK2 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
JAK2 mutant childhood B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK2 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
JAK2 mutant myelofibrosis not applicable N/A Guideline Diagnostic JAK2 mutations aid in the diagnosis of primary myelofibrosis (NCCN.org). detail...