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Gene JAK3
Variant R142C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK3 R142C lies within the FERM domain of the Jak3 protein (UniProt.org). R142C has been identified in the scientific literature (PMID: 32639993), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Mar 2024).
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 R142C

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Transcript NM_000215.4
gDNA chr19:g.17843169G>A
cDNA c.424C>T
Protein p.R142C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011527991.3 chr19:g.17843169G>A c.424C>T p.R142C RefSeq GRCh38/hg38
NM_000215 chr19:g.17843169G>A c.424C>T p.R142C RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17843169G>A c.424C>T p.R142C RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17843169G>A c.424C>T p.R142C RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17843169G>A c.424C>T p.R142C 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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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...