JAK3 R540H
Gene Variant Detail

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Gene JAK3
Variant R540H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK3 R540H lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). R540H has been identified in sequencing studies (PMID: 27149842, PMID: 38024597), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 R540H

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Transcript NM_000215.4
gDNA chr19:g.17838014C>T
cDNA c.1619G>A
Protein p.R540H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215 chr19:g.17838014C>T c.1619G>A p.R540H RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17838014C>T c.1619G>A p.R540H RefSeq GRCh38/hg38
XM_011527991.3 chr19:g.17838014C>T c.1619G>A p.R540H RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17838014C>T c.1619G>A p.R540H RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17838014C>T c.1619G>A p.R540H 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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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...