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Gene JAK3
Variant M576fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions JAK3 M576fs results in a change in the amino acid sequence of the Jak3 protein beginning at aa 576 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), M576fs is predicted to lead to a loss of Jak3 protein function.
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 inact mut JAK3 M576fs

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Transcript NM_000215.4
gDNA chr19:g.(17837189_17837190)
cDNA c.(1726_1725)
Protein p.M576fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011527991.3 chr19:g.(17837189_17837190) c.(1726_1725) p.M576fs RefSeq GRCh38/hg38
NM_000215 chr19:g.17837188_17837189insG c.1726_1727insC p.M576fs*86 RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.(17837189_17837190) c.(1726_1725) p.M576fs RefSeq GRCh38/hg38
NM_000215.4 chr19:g.(17837189_17837190) c.(1726_1725) p.M576fs RefSeq GRCh38/hg38
NM_000215.3 chr19:g.(17837189_17837190) c.(1726_1725) p.M576fs RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References