We’re improving your experience!

Starting April 21, you’ll be asked to log in or sign up for a free account after viewing 10 content pages each month.

Don’t worry—creating an account is quick and easy, and it comes with added benefits! Once logged in, you’ll not only continue accessing the content you already enjoy, but you’ll also unlock exclusive features like interactive donut plots for variant protein effects and variant impacts across the gene.

Stay tuned for these updates, and thank you for being part of our community!

JAK2 F694S - 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 F694S
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 F694S lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). F694S results in increased kinase activity, and activation of Stat5, Erk, and Akt in cell culture (PMID: 19638629).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 F694S

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.5078394T>C
cDNA c.2081T>C
Protein p.F694S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195 chr9:g.5078394T>C c.2081T>C p.F694S RefSeq GRCh38/hg38
NM_001322196 chr9:g.5078394T>C c.2081T>C p.F694S RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5078394T>C c.2081T>C p.F694S RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5078394T>C c.2081T>C p.F694S RefSeq GRCh38/hg38
NM_004972 chr9:g.5078394T>C c.2081T>C p.F694S RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5078394T>C c.2081T>C p.F694S RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5078394T>C c.2081T>C p.F694S RefSeq GRCh38/hg38
NM_001322194 chr9:g.5078394T>C c.2081T>C p.F694S RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5078394T>C c.2081T>C p.F694S RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5078394T>C c.2081T>C p.F694S RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5078394T>C c.2081T>C p.F694S RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5078394T>C c.2081T>C p.F694S 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