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 F556A
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 F556A lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). F556A confers a gain of function to the Jak2 protein as demonstrated by increased enzymatic activity and Stat5 binding, cytokine-independent Stat5 activation, and transformation of cultured cells (PMID: 29842959).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 F556A

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.5072516_5072517delTTinsGC
cDNA c.1666_1667delTTinsGC
Protein p.F556A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196 chr9:g.5072516_5072517delTTinsGC c.1666_1667delTTinsGC p.F556A RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5072516_5072517delTTinsGC c.1666_1667delTTinsGC p.F556A RefSeq GRCh38/hg38
NM_004972 chr9:g.5072516_5072517delTTinsGC c.1666_1667delTTinsGC p.F556A RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5072516_5072517delTTinsGC c.1666_1667delTTinsGC p.F556A RefSeq GRCh38/hg38
NM_001322195 chr9:g.5072516_5072517delTTinsGC c.1666_1667delTTinsGC p.F556A RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5072516_5072517delTTinsGC c.1666_1667delTTinsGC p.F556A RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5072516_5072517delTTinsGC c.1666_1667delTTinsGC p.F556A RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5072516_5072517delTTinsGC c.1666_1667delTTinsGC p.F556A RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5072516_5072517delTTinsGC c.1666_1667delTTinsGC p.F556A RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5072516_5072517delTTinsGC c.1666_1667delTTinsGC p.F556A RefSeq GRCh38/hg38
NM_001322194 chr9:g.5072516_5072517delTTinsGC c.1666_1667delTTinsGC p.F556A RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5072516_5072517delTTinsGC c.1666_1667delTTinsGC p.F556A 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 Protein Effect Treatment Approaches
JAK2 F556A gain of function JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK2 Inhibitor JAK2 Inhibitor - ATP competitive