JAK3 Q501H
Gene Variant Detail

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Gene JAK3
Variant Q501H
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK3 Q501H does not lie within any known functional domains of the Jak3 protein (UniProt.org). Q501H confers a gain of function to Jak3, as indicated by phosphorylation of downstream Stat5, and is transforming in cell culture (PMID: 18397343, PMID: 20400977).
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 act mut JAK3 Q501H

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Transcript NM_000215.4
gDNA chr19:g.17838329C>A
cDNA c.1503G>T
Protein p.Q501H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215.3 chr19:g.17838329C>A c.1503G>T p.Q501H RefSeq GRCh38/hg38
XM_011527991.3 chr19:g.17838329C>A c.1503G>T p.Q501H RefSeq GRCh38/hg38
NM_000215 chr19:g.17838329C>A c.1503G>T p.Q501H RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17838329C>A c.1503G>T p.Q501H RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17838329C>A c.1503G>T p.Q501H RefSeq GRCh38/hg38

Filtering

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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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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...