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Gene JAK3
Variant P725fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions JAK3 P725fs results in a change in the amino acid sequence of the Jak3 protein beginning at aa 725 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 (UniProt.org), P725fs is predicted to lead to a loss of Jak3 protein function.
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 inact mut JAK3 P725fs

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Transcript NM_000215.4
gDNA chr19:g.(17834878_17834879)
cDNA c.(2173_2172)
Protein p.P725fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215.3 chr19:g.(17834878_17834879) c.(2173_2172) p.P725fs RefSeq GRCh38/hg38
NM_000215.4 chr19:g.(17834878_17834879) c.(2173_2172) p.P725fs RefSeq GRCh38/hg38
NM_000215 chr19:g.17834877_17834878insC c.2173_2174insG p.P725fs*9 RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.(17834878_17834879) c.(2173_2172) p.P725fs RefSeq GRCh38/hg38

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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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  • 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