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Gene JAK1
Variant F805V
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK1 F805V lies within protein kinase domain 1 of the Jak1 protein (UniProt.org). F805V confers a gain of function to Jak1 as demonstrated by increased Stat1 and Stat5 phosphorylation and cytokine-independent growth in cultured cells (PMID: 36786170).
Associated Drug Resistance
Category Variants Paths

JAK1 mutant JAK1 act mut JAK1 F805V

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Transcript NM_002227.4
gDNA chr1:g.64841592A>C
cDNA c.2413T>G
Protein p.F805V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047419675.1 chr1:g.64841592A>C c.2413T>G p.F805V RefSeq GRCh38/hg38
NM_001321853.2 chr1:g.64841592A>C c.2413T>G p.F805V RefSeq GRCh38/hg38
NM_002227.4 chr1:g.64841592A>C c.2413T>G p.F805V RefSeq GRCh38/hg38
NM_001321852.2 chr1:g.64841592A>C c.2413T>G p.F805V RefSeq GRCh38/hg38
NM_001321854.2 chr1:g.64841592A>C c.2413T>G p.F805V RefSeq GRCh38/hg38
XM_047419674.1 chr1:g.64841592A>C c.2413T>G p.F805V RefSeq GRCh38/hg38
NM_001320923.2 chr1:g.64841592A>C c.2413T>G p.F805V RefSeq GRCh38/hg38
NM_001321855.2 chr1:g.64841592A>C c.2413T>G p.F805V RefSeq GRCh38/hg38
NM_001321856.2 chr1:g.64841592A>C c.2413T>G p.F805V 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.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK1 F805V hematologic cancer sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, Jakafi (ruxolitinib) inhibited Stat5 phosphorylation and viability in a cell line expressing JAK1 F805V in culture (PMID: 36786170). 36786170