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Gene JAK1
Variant L929Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK1 L929Q lies within protein kinase domain 2 of the Jak1 protein (UniProt.org). L929Q has been associated with resistance to Jak inhibitors in combination with JAK1 V658F in culture (PMID: 39091915), but has not been fully biochemically characterized and therefore, its effect on Jak1 protein function is unknown (PubMed, Sep 2024).
Associated Drug Resistance Y
Category Variants Paths

JAK1 mutant JAK1 L929Q

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Transcript NM_002227.4
gDNA chr1:g.64839659_64839660delTTinsCA
cDNA c.2785_2786delTTinsCA
Protein p.L929Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001321856.2 chr1:g.64839659_64839660delTTinsCA c.2785_2786delTTinsCA p.L929Q RefSeq GRCh38/hg38
NM_001320923.2 chr1:g.64839659_64839660delTTinsCA c.2785_2786delTTinsCA p.L929Q RefSeq GRCh38/hg38
NM_001321855.2 chr1:g.64839659_64839660delTTinsCA c.2785_2786delTTinsCA p.L929Q RefSeq GRCh38/hg38
XM_047419675.1 chr1:g.64839659_64839660delTTinsCA c.2785_2786delTTinsCA p.L929Q RefSeq GRCh38/hg38
NM_001321854.2 chr1:g.64839659_64839660delTTinsCA c.2785_2786delTTinsCA p.L929Q RefSeq GRCh38/hg38
NM_001321852.2 chr1:g.64839659_64839660delTTinsCA c.2785_2786delTTinsCA p.L929Q RefSeq GRCh38/hg38
XM_047419674.1 chr1:g.64839659_64839660delTTinsCA c.2785_2786delTTinsCA p.L929Q RefSeq GRCh38/hg38
NM_001321853.2 chr1:g.64839659_64839660delTTinsCA c.2785_2786delTTinsCA p.L929Q RefSeq GRCh38/hg38
NM_002227.4 chr1:g.64839659_64839660delTTinsCA c.2785_2786delTTinsCA p.L929Q 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 )
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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...