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Gene JAK3
Variant P906S
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK3 P906S lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). P906S results in increased cytokine receptor complex-dependent activation of Jak3 in cell culture (PMID: 26446793), and therefore, is predicted to lead to a gain of Jak3 protein function.
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 act mut JAK3 P906S

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Transcript NM_000215.4
gDNA chr19:g.17831763G>A
cDNA c.2716C>T
Protein p.P906S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215 chr19:g.17831763G>A c.2716C>T p.P906S RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17831763G>A c.2716C>T p.P906S RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17831763G>A c.2716C>T p.P906S RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17831763G>A c.2716C>T p.P906S RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK3 mutant childhood B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK3 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
JAK3 mutant B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK3 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...