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Gene JAK3
Variant G589D
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK3 G589D lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). G589D has not been biochemically characterized, but results in transformation of cells in culture (PMID: 28284718), and therefore, is predicted to lead to a gain of Jak3 protein function.
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 act mut JAK3 G589D

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Transcript NM_000215.4
gDNA chr19:g.17837149C>T
cDNA c.1766G>A
Protein p.G589D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215 chr19:g.17837149C>T c.1766G>A p.G589D RefSeq GRCh38/hg38
XM_011527991.3 chr19:g.17837149C>T c.1766G>A p.G589D RefSeq GRCh38/hg38
XM_011527990.1 chr19:g.17837995_17837996delGGinsAC c.1766_1767delGGinsAC p.G589D RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17837149C>T c.1766G>A p.G589D RefSeq GRCh38/hg38
XM_005259896 chr19:g.17837995_17837996delCCinsGT c.1766_1767delGGinsAC p.G589D RefSeq GRCh38/hg38
XM_011527990 chr19:g.17837995_17837996delCCinsGT c.1766_1767delGGinsAC p.G589D RefSeq GRCh38/hg38
XM_011527991 chr19:g.17837995_17837996delCCinsGT c.1766_1767delGGinsAC p.G589D RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17837149C>T c.1766G>A p.G589D RefSeq GRCh38/hg38
XM_005259896.3 chr19:g.17837995_17837996delGGinsAC c.1766_1767delGGinsAC p.G589D RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17837149C>T c.1766G>A p.G589D RefSeq GRCh38/hg38
XM_011527991.2 chr19:g.17837995_17837996delGGinsAC c.1766_1767delGGinsAC p.G589D RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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...
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...