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Gene JAK3
Variant G589S
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions JAK3 G589S lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). G589S results in normal binding to IL2R-alpha gamma chain but demonstrates loss of Jak3 autophosphorylation in cell culture (PMID: 14615376), and therefore, is predicted to lead to a loss of Jak3 protein function.
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 inact mut JAK3 G589S

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Transcript NM_000215.4
gDNA chr19:g.17837150C>T
cDNA c.1765G>A
Protein p.G589S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011527991 chr19:g.17837995_17837997delCCCinsGCT c.1765_1767delGGGinsAGC p.G589S RefSeq GRCh38/hg38
XM_011527991.2 chr19:g.17837995_17837997delGGGinsAGC c.1765_1767delGGGinsAGC p.G589S RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17837150C>T c.1765G>A p.G589S RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17837150C>T c.1765G>A p.G589S RefSeq GRCh38/hg38
XM_011527990.1 chr19:g.17837995_17837997delGGGinsAGC c.1765_1767delGGGinsAGC p.G589S RefSeq GRCh38/hg38
XM_005259896 chr19:g.17837995_17837997delCCCinsGCT c.1765_1767delGGGinsAGC p.G589S RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17837150C>T c.1765G>A p.G589S RefSeq GRCh38/hg38
NM_000215 chr19:g.17837150C>T c.1765G>A p.G589S RefSeq GRCh38/hg38
XM_005259896.3 chr19:g.17837995_17837997delGGGinsAGC c.1765_1767delGGGinsAGC p.G589S RefSeq GRCh38/hg38
XM_011527991.3 chr19:g.17837150C>T c.1765G>A p.G589S RefSeq GRCh38/hg38
XM_011527990 chr19:g.17837995_17837997delCCCinsGCT c.1765_1767delGGGinsAGC p.G589S RefSeq GRCh38/hg38

Filtering

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