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@jax.org

Gene JAK2
Variant Y570F
Impact List missense
Protein Effect no effect
Gene Variant Descriptions JAK2 Y570F lies within the protein kinase domain 1 of the Jak2 protein (UniProt.org). Y570F results in Epo-induced activation of Jak2 and cytokine-induced colony formation similar to wild-type Jak2 in culture (PMID: 18160720).
Associated Drug Resistance

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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
gDNA chr9:g.5072559A>T
cDNA c.1709A>T
Protein p.Y570F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195 chr9:g.5072559A>T c.1709A>T p.Y570F RefSeq GRCh38/hg38
NM_001322194 chr9:g.5072559A>T c.1709A>T p.Y570F RefSeq GRCh38/hg38
NM_001322196 chr9:g.5072559A>T c.1709A>T p.Y570F RefSeq GRCh38/hg38
NM_001322196 chr9:g.5072559A>T c.1709A>T p.Y570F RefSeq GRCh38/hg38
NM_001322195 chr9:g.5072559A>T c.1709A>T p.Y570F RefSeq GRCh38/hg38
NM_004972 chr9:g.5072559A>T c.1709A>T p.Y570F RefSeq GRCh38/hg38
NM_004972 chr9:g.5072559A>T c.1709A>T p.Y570F RefSeq GRCh38/hg38
NM_001322194 chr9:g.5072559A>T c.1709A>T p.Y570F RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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 Y570F no effect
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References