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 Y613E
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 Y613E lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). Y613E results in constitutive activation of Jak2 and restores colony formation in cells lacking Jak2 in the absence of Epo, but does not restore colony formation in the absence of Epo/IL3 in culture (PMID: 18160720).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 Y613E

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.5073758_5073760delTATinsGAG
cDNA c.1837_1839delTATinsGAG
Protein p.Y613E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194.1 chr9:g.5073758_5073760delTATinsGAG c.1837_1839delTATinsGAG p.Y613E RefSeq GRCh38/hg38
NM_001322195 chr9:g.5073758_5073760delTATinsGAG c.1837_1839delTATinsGAG p.Y613E RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5073758_5073760delTATinsGAG c.1837_1839delTATinsGAG p.Y613E RefSeq GRCh38/hg38
NM_001322196 chr9:g.5073758_5073760delTATinsGAG c.1837_1839delTATinsGAG p.Y613E RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5073758_5073760delTATinsGAG c.1837_1839delTATinsGAG p.Y613E RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5073758_5073760delTATinsGAG c.1837_1839delTATinsGAG p.Y613E RefSeq GRCh38/hg38
NM_004972 chr9:g.5073758_5073760delTATinsGAG c.1837_1839delTATinsGAG p.Y613E RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5073758_5073760delTATinsGAG c.1837_1839delTATinsGAG p.Y613E RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5073758_5073760delTATinsGAG c.1837_1839delTATinsGAG p.Y613E RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5073758_5073760delTATinsGAG c.1837_1839delTATinsGAG p.Y613E RefSeq GRCh38/hg38
NM_001322194 chr9:g.5073758_5073760delTATinsGAG c.1837_1839delTATinsGAG p.Y613E RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5073758_5073760delTATinsGAG c.1837_1839delTATinsGAG p.Y613E 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 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...
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...