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Gene JAK3
Variant M511I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK3 M511I does not lie within any known functional domains of the Jak3 protein (UniProt.org). M511I results in increased phosphorylation of Jak3, activation of Stat5 and Erk signaling, enhanced tumor growth in animal models, and is transforming in cell culture (PMID: 25193870, PMID: 28852199, PMID: 20400977, PMID: 29046866).
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 act mut JAK3 M511I

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Transcript NM_000215.4
gDNA chr19:g.17838299C>G
cDNA c.1533G>C
Protein p.M511I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215 chr19:g.17838299C>G c.1533G>C p.M511I RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17838299C>G c.1533G>C p.M511I RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17838299C>G c.1533G>C p.M511I RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17838299C>G c.1533G>C p.M511I RefSeq GRCh38/hg38
XM_011527991.3 chr19:g.17838299C>G c.1533G>C p.M511I RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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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  • Click on any column header arrows to sort by that column
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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...