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Gene JAK3
Variant R172Q
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK3 R172Q lies within the FERM domain of the Jak3 protein (UniProt.org). R172Q confers a gain of function to the Jak3 protein as demonstrated by constitutive autophosphorylation of Jak3 and increased phosphorylation of Stat5a, and is transforming in cultured cells (PMID: 21821710).
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 act mut JAK3 R172Q

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Transcript NM_000215.4
gDNA chr19:g.17843078C>T
cDNA c.515G>A
Protein p.R172Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011527991.3 chr19:g.17843078C>T c.515G>A p.R172Q RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17843078C>T c.515G>A p.R172Q RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17843078C>T c.515G>A p.R172Q RefSeq GRCh38/hg38
NM_000215 chr19:g.17843078C>T c.515G>A p.R172Q RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17843078C>T c.515G>A p.R172Q 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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  • 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...