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Gene JAK1
Variant F958V
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK1 F958V lies within the protein kinase domain 2 of the Jak1 protein (UniProt.org). F958V results in constitutive Jak1 activation, increased phosphorylation of Stat5 and Erk, transformation of cultured cells, and tumor formation in mouse models, and confers resistance to Jak inhibitors in culture (PMID: 21393331).
Associated Drug Resistance Y
Category Variants Paths

JAK1 mutant JAK1 act mut JAK1 F958V

JAK1 mutant JAK1 F958X JAK1 F958V

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Transcript NM_002227.4
gDNA chr1:g.64838560A>C
cDNA c.2872T>G
Protein p.F958V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001321856.1 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001321853.2 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001321856.2 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001321852 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001320923.1 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_002227.3 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001321853 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001321855.2 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001321852.2 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_002227 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001321853.1 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001321856 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
XM_047419674.1 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_002227.4 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001321854.1 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001321855.1 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001321854.2 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001320923.2 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001321855 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001321852.1 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001320923 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
XM_047419675.1 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38
NM_001321854 chr1:g.64838560A>C c.2872T>G p.F958V RefSeq GRCh38/hg38

Filtering

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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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  • 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 mutant B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK1 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
JAK1 mutant childhood B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK1 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...