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Gene JAK1
Variant Y654F
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK1 Y654F lies within protein kinase domain 1 of the Jak1 protein (UniProt.org). Y654F demonstrated constitutive activation of JAK-STAT signaling in primary cells in culture (PMID: 26415585), and therefore, is predicted to lead to a gain of Jak1 protein function.
Associated Drug Resistance
Category Variants Paths

JAK1 mutant JAK1 act mut JAK1 Y654F

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Transcript NM_002227.4
gDNA chr1:g.64846675T>A
cDNA c.1961A>T
Protein p.Y654F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001321854.1 chr1:g.64846675T>A c.1961A>T p.Y654F RefSeq GRCh38/hg38
NM_001321852.1 chr1:g.64846675T>A c.1961A>T p.Y654F RefSeq GRCh38/hg38
NM_001321853.2 chr1:g.64846675T>A c.1961A>T p.Y654F RefSeq GRCh38/hg38
XM_047419675.1 chr1:g.64846675T>A c.1961A>T p.Y654F RefSeq GRCh38/hg38
NM_001320923.1 chr1:g.64846675T>A c.1961A>T p.Y654F RefSeq GRCh38/hg38
NM_001321856 chr1:g.64846675T>A c.1961A>T p.Y654F RefSeq GRCh38/hg38
NM_002227 chr1:g.64846675T>A c.1961A>T p.Y654F RefSeq GRCh38/hg38
NM_001320923.2 chr1:g.64846675T>A c.1961A>T p.Y654F RefSeq GRCh38/hg38
NM_002227.4 chr1:g.64846675T>A c.1961A>T p.Y654F RefSeq GRCh38/hg38
NM_001321852 chr1:g.64846675T>A c.1961A>T p.Y654F RefSeq GRCh38/hg38
NM_001321855 chr1:g.64846675T>A c.1961A>T p.Y654F RefSeq GRCh38/hg38
NM_001321854.2 chr1:g.64846675T>A c.1961A>T p.Y654F RefSeq GRCh38/hg38
NM_001321852.2 chr1:g.64846675T>A c.1961A>T p.Y654F RefSeq GRCh38/hg38
NM_001321856.2 chr1:g.64846675T>A c.1961A>T p.Y654F RefSeq GRCh38/hg38
XM_047419674.1 chr1:g.64846675T>A c.1961A>T p.Y654F RefSeq GRCh38/hg38
NM_002227.3 chr1:g.64846675T>A c.1961A>T p.Y654F RefSeq GRCh38/hg38
NM_001321855.1 chr1:g.64846675T>A c.1961A>T p.Y654F RefSeq GRCh38/hg38
NM_001320923 chr1:g.64846675T>A c.1961A>T p.Y654F RefSeq GRCh38/hg38
NM_001321853 chr1:g.64846675T>A c.1961A>T p.Y654F RefSeq GRCh38/hg38
NM_001321856.1 chr1:g.64846675T>A c.1961A>T p.Y654F RefSeq GRCh38/hg38
NM_001321855.2 chr1:g.64846675T>A c.1961A>T p.Y654F RefSeq GRCh38/hg38
NM_001321854 chr1:g.64846675T>A c.1961A>T p.Y654F RefSeq GRCh38/hg38
NM_001321853.1 chr1:g.64846675T>A c.1961A>T p.Y654F 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
JAK1 Y654F Sezary's disease sensitive Pyridone 6 Preclinical - Cell culture Actionable In a preclinical study, Pyridone 6 (CMP6) inhibited proliferation of cells derived from a Sezary syndrome patient harboring JAK1 Y654F in culture (PMID: 26415585). 26415585
JAK1 Y654F Sezary's disease sensitive Ruxolitinib Preclinical - Patient cell culture Actionable In a preclinical study, Jakafi (ruxolitinib) inhibited growth of primary cells derived from a Sezary syndrome patient harboring JAK1 Y654F in culture (PMID: 26415585). 26415585