Gene Variant Detail

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Gene JAK1
Variant V658L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK1 V658L lies within the protein kinase domain 1 of the Jak1 protein (UniProt.org). V658L results in constitutive Jak1 activation, increased phosphorylation of Stat5 and Erk, and is transforming in cell culture (PMID: 21393331, PMID: 20868368).
Associated Drug Resistance

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Transcript NM_002227.3
gDNA chr1:g.64846664C>G
cDNA c.1972G>C
Protein p.V658L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001321852 chr1:g.64846664C>G c.1972G>C p.V658L RefSeq GRCh38/hg38
NM_001321855 chr1:g.64846664C>G c.1972G>C p.V658L RefSeq GRCh38/hg38
NM_001321852.1 chr1:g.64846664C>G c.1972G>C p.V658L RefSeq GRCh38/hg38
NM_001321853 chr1:g.64846664C>G c.1972G>C p.V658L RefSeq GRCh38/hg38
NM_001321854 chr1:g.64846664C>G c.1972G>C p.V658L RefSeq GRCh38/hg38
NM_002227 chr1:g.64846664C>G c.1972G>C p.V658L RefSeq GRCh38/hg38
NM_001321853.1 chr1:g.64846664C>G c.1972G>C p.V658L RefSeq GRCh38/hg38
NM_001320923.1 chr1:g.64846664C>G c.1972G>C p.V658L RefSeq GRCh38/hg38
NM_001321855.1 chr1:g.64846664C>G c.1972G>C p.V658L RefSeq GRCh38/hg38
NM_001321854.1 chr1:g.64846664C>G c.1972G>C p.V658L RefSeq GRCh38/hg38
NM_001321856.1 chr1:g.64846664C>G c.1972G>C p.V658L RefSeq GRCh38/hg38
NM_001321856 chr1:g.64846664C>G c.1972G>C p.V658L RefSeq GRCh38/hg38
NM_001320923 chr1:g.64846664C>G c.1972G>C p.V658L RefSeq GRCh38/hg38
NM_002227.3 chr1:g.64846664C>G c.1972G>C p.V658L RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK1 V658L cancer sensitive Ruxolitinib Preclinical Actionable In a preclinical study, transformed cells harboring JAK1 V658L were sensitive to ATP-competetive JAK (Ruxolitinib) (PMID: 21393331). 21393331
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...