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 I682G
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK2 I682G lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). I682G demonstrates increased enzyme activity and decreased structural stability in an in vitro assay (PMID: 25940527), and therefore, is predicted to lead to a gain of Jak2 protein function.
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 I682G

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.5078357_5078358delATinsGG
cDNA c.2044_2045delATinsGG
Protein p.I682G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196.2 chr9:g.5078357_5078358delATinsGG c.2044_2045delATinsGG p.I682G RefSeq GRCh38/hg38
NM_004972 chr9:g.5078357_5078358delATinsGG c.2044_2045delATinsGG p.I682G RefSeq GRCh38/hg38
NM_001322195 chr9:g.5078357_5078358delATinsGG c.2044_2045delATinsGG p.I682G RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5078357_5078358delATinsGG c.2044_2045delATinsGG p.I682G RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5078357_5078358delATinsGG c.2044_2045delATinsGG p.I682G RefSeq GRCh38/hg38
NM_001322194 chr9:g.5078357_5078358delATinsGG c.2044_2045delATinsGG p.I682G RefSeq GRCh38/hg38
NM_001322196 chr9:g.5078357_5078358delATinsGG c.2044_2045delATinsGG p.I682G RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5078357_5078358delATinsGG c.2044_2045delATinsGG p.I682G RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5078357_5078358delATinsGG c.2044_2045delATinsGG p.I682G RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5078357_5078358delATinsGG c.2044_2045delATinsGG p.I682G RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5078357_5078358delATinsGG c.2044_2045delATinsGG p.I682G RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5078357_5078358delATinsGG c.2044_2045delATinsGG p.I682G 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 myelofibrosis not applicable N/A Guideline Diagnostic JAK2 mutations aid in the diagnosis of primary myelofibrosis (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 essential thrombocythemia not applicable N/A Guideline Diagnostic JAK2 mutations aid in the diagnosis of essential thrombocythemia (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...