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Gene JAK3
Variant L586_M592del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions JAK3 L586_M592del results in the deletion of seven amino acids in protein kinase domain 1 of the Jak3 protein from amino acids 586 to 592 (PMID: 10629052). L586_M592del results in constitutive hyperphosphorylation but demonstrates failure to mediate IL-2-dependent Stat5 activation in culture (PMID: 10629052), and therefore, is predicted to lead to a loss of Jak3 protein function.
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 inact mut JAK3 L586_M592del

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Transcript NM_000215.4
gDNA chr19:g.17837141_17837161del21
cDNA c.1756_1776del21
Protein p.L586_M592delLLHGVCM
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047438786.1 chr19:g.17837141_17837161del21 c.1756_1776del21 p.L586_M592delLLHGVCM RefSeq GRCh38/hg38
NM_000215 chr19:g.17837141_17837161del21 c.1756_1776del21 p.L586_M592del RefSeq GRCh38/hg38
XM_011527991.3 chr19:g.17837141_17837161del21 c.1756_1776del21 p.L586_M592delLLHGVCM RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17837141_17837161del21 c.1756_1776del21 p.L586_M592delLLHGVCM RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17837141_17837161del21 c.1756_1776del21 p.L586_M592del 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 )
  • 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries