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Gene JAK1
Variant S729C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK1 S729C lies within the protein kinase domain 1 of the Jak1 protein (UniProt.org). S729C results in constitutive phosphorylation of Jak1 and activation of Stat3, is transforming in culture, and induces gene expression signature consistent with Jak1 activation in patient samples (PMID: 23788652).
Associated Drug Resistance
Category Variants Paths

JAK1 mutant JAK1 act mut JAK1 S729C

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Transcript NM_002227.4
gDNA chr1:g.64844820T>A
cDNA c.2185A>T
Protein p.S729C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001321855 chr1:g.64844820T>A c.2185A>T p.S729C RefSeq GRCh38/hg38
NM_001321856 chr1:g.64844820T>A c.2185A>T p.S729C RefSeq GRCh38/hg38
XM_047419675.1 chr1:g.64844820T>A c.2185A>T p.S729C RefSeq GRCh38/hg38
NM_001321853 chr1:g.64844820T>A c.2185A>T p.S729C RefSeq GRCh38/hg38
XM_047419674.1 chr1:g.64844820T>A c.2185A>T p.S729C RefSeq GRCh38/hg38
NM_001321856.2 chr1:g.64844820T>A c.2185A>T p.S729C RefSeq GRCh38/hg38
NM_001320923.1 chr1:g.64844820T>A c.2185A>T p.S729C RefSeq GRCh38/hg38
NM_001321852.1 chr1:g.64844820T>A c.2185A>T p.S729C RefSeq GRCh38/hg38
NM_001321853.2 chr1:g.64844820T>A c.2185A>T p.S729C RefSeq GRCh38/hg38
NM_002227.4 chr1:g.64844820T>A c.2185A>T p.S729C RefSeq GRCh38/hg38
NM_002227.3 chr1:g.64844820T>A c.2185A>T p.S729C RefSeq GRCh38/hg38
NM_001321852 chr1:g.64844820T>A c.2185A>T p.S729C RefSeq GRCh38/hg38
NM_001320923 chr1:g.64844820T>A c.2185A>T p.S729C RefSeq GRCh38/hg38
NM_001321854.1 chr1:g.64844820T>A c.2185A>T p.S729C RefSeq GRCh38/hg38
NM_001321855.1 chr1:g.64844820T>A c.2185A>T p.S729C RefSeq GRCh38/hg38
NM_001320923.2 chr1:g.64844820T>A c.2185A>T p.S729C RefSeq GRCh38/hg38
NM_001321855.2 chr1:g.64844820T>A c.2185A>T p.S729C RefSeq GRCh38/hg38
NM_001321854.2 chr1:g.64844820T>A c.2185A>T p.S729C RefSeq GRCh38/hg38
NM_001321856.1 chr1:g.64844820T>A c.2185A>T p.S729C RefSeq GRCh38/hg38
NM_002227 chr1:g.64844820T>A c.2185A>T p.S729C RefSeq GRCh38/hg38
NM_001321852.2 chr1:g.64844820T>A c.2185A>T p.S729C RefSeq GRCh38/hg38
NM_001321854 chr1:g.64844820T>A c.2185A>T p.S729C RefSeq GRCh38/hg38
NM_001321853.1 chr1:g.64844820T>A c.2185A>T p.S729C RefSeq GRCh38/hg38

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  • 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References