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Gene JAK3
Variant S703fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions JAK3 S703fs results in a change in the amino acid sequence of the Jak3 protein beginning at aa 703 of 1124, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of protein kinase domain 1 and the entire protein kinase domain 2 (PMID: 12351625), S703fs is predicted to lead to a loss of Jak3 protein function.
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 inact mut JAK3 S703fs

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Transcript NM_000215.4
gDNA chr19:g.(17834944_17834945)
cDNA c.(2107_2106)
Protein p.S703fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215.3 chr19:g.(17834944_17834945) c.(2107_2106) p.S703fs RefSeq GRCh38/hg38
NM_000215.4 chr19:g.(17834944_17834945) c.(2107_2106) p.S703fs RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.(17834944_17834945) c.(2107_2106) p.S703fs RefSeq GRCh38/hg38
NM_000215 chr19:g.17834946delA c.2106delT p.S703fs*53 RefSeq GRCh38/hg38

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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...