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Gene JAK3
Variant K556A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK3 K556A lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). K556A demonstrates activation of Stat5 signaling similar to wild-type Jak3, but attenuates Stat5 activation by activating Jak3 mutations (PMID: 30560087), and fails to localize to membrane in cell culture (PMID: 15143194), and therefore, its effect on Jak3 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 K556A

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Transcript NM_000215.4
gDNA chr19:g.17837966_17837967delAAinsGC
cDNA c.1666_1667delAAinsGC
Protein p.K556A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047438786.1 chr19:g.17837966_17837967delAAinsGC c.1666_1667delAAinsGC p.K556A RefSeq GRCh38/hg38
XM_011527991.3 chr19:g.17837966_17837967delAAinsGC c.1666_1667delAAinsGC p.K556A RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17837966_17837967delAAinsGC c.1666_1667delAAinsGC p.K556A RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17837966_17837967delAAinsGC c.1666_1667delAAinsGC p.K556A RefSeq GRCh38/hg38
NM_000215 chr19:g.17837966_17837967delTTinsGC c.1666_1667delAAinsGC p.K556A 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")

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