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Gene JAK1
Variant S646P
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK1 S646P lies within the protein kinase domain 1 of the Jak1 protein (UniProt.org). S646P results in autophosphorylation of Jak1, constitutive activation of Stat3 and Erk, and is transforming in culture (PMID: 28410228).
Associated Drug Resistance
Category Variants Paths

JAK1 mutant JAK1 act mut JAK1 S646P

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Transcript NM_002227.4
gDNA chr1:g.64846700A>G
cDNA c.1936T>C
Protein p.S646P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001321853 chr1:g.64846700A>G c.1936T>C p.S646P RefSeq GRCh38/hg38
XM_047419674.1 chr1:g.64846700A>G c.1936T>C p.S646P RefSeq GRCh38/hg38
NM_001321856.1 chr1:g.64846700A>G c.1936T>C p.S646P RefSeq GRCh38/hg38
NM_001320923 chr1:g.64846700A>G c.1936T>C p.S646P RefSeq GRCh38/hg38
NM_002227.4 chr1:g.64846700A>G c.1936T>C p.S646P RefSeq GRCh38/hg38
NM_001321852 chr1:g.64846700A>G c.1936T>C p.S646P RefSeq GRCh38/hg38
NM_001321854 chr1:g.64846700A>G c.1936T>C p.S646P RefSeq GRCh38/hg38
NM_001321854.2 chr1:g.64846700A>G c.1936T>C p.S646P RefSeq GRCh38/hg38
NM_001321856.2 chr1:g.64846700A>G c.1936T>C p.S646P RefSeq GRCh38/hg38
NM_001321855.1 chr1:g.64846700A>G c.1936T>C p.S646P RefSeq GRCh38/hg38
NM_002227 chr1:g.64846700A>G c.1936T>C p.S646P RefSeq GRCh38/hg38
NM_001321853.2 chr1:g.64846700A>G c.1936T>C p.S646P RefSeq GRCh38/hg38
NM_001321854.1 chr1:g.64846700A>G c.1936T>C p.S646P RefSeq GRCh38/hg38
NM_001321855 chr1:g.64846700A>G c.1936T>C p.S646P RefSeq GRCh38/hg38
NM_001321852.1 chr1:g.64846700A>G c.1936T>C p.S646P RefSeq GRCh38/hg38
NM_001321853.1 chr1:g.64846700A>G c.1936T>C p.S646P RefSeq GRCh38/hg38
NM_002227.3 chr1:g.64846700A>G c.1936T>C p.S646P RefSeq GRCh38/hg38
NM_001321852.2 chr1:g.64846700A>G c.1936T>C p.S646P RefSeq GRCh38/hg38
NM_001320923.2 chr1:g.64846700A>G c.1936T>C p.S646P RefSeq GRCh38/hg38
NM_001321855.2 chr1:g.64846700A>G c.1936T>C p.S646P RefSeq GRCh38/hg38
XM_047419675.1 chr1:g.64846700A>G c.1936T>C p.S646P RefSeq GRCh38/hg38
NM_001321856 chr1:g.64846700A>G c.1936T>C p.S646P RefSeq GRCh38/hg38
NM_001320923.1 chr1:g.64846700A>G c.1936T>C p.S646P 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK1 S646P Advanced Solid Tumor sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, treatment with Jakafi (ruxolitinib) resulted in inhibition of both Jak1 autophosphorylation and Stat3 and Erk activity, and inhibition of cell proliferation in culture in transformed cells expressing JAK1 S646P (PMID: 28410228). 28410228