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Gene JAK3
Variant A58del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions JAK3 A58del results in the deletion of one amino acid in the FERM domain of the Jak3 protein at amino acid 58 (UniProt.org). A58del confers a loss of function as demonstrated by the loss of Jak3 autophosphorylation and loss of binding to the IL-2R alpha receptor in cell culture (PMID: 14615376).
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 inact mut JAK3 A58del

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Transcript NM_000215.4
gDNA chr19:g.17844244_17844246delGGC
cDNA c.172_174delGCC
Protein p.A58delA
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011527991 chr19:g.17844373_17844375delTGA c.173_175delCAT p.S58delS RefSeq GRCh38/hg38
XM_011527990.1 chr19:g.17844373_17844375delTGA c.173_175delCAT p.S58delS RefSeq GRCh38/hg38
XM_005259896.3 chr19:g.17844373_17844375delTGA c.173_175delCAT p.S58delS RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17844244_17844246delGGC c.172_174delGCC p.A58delA RefSeq GRCh38/hg38
XM_011527990 chr19:g.17844373_17844375delTGA c.173_175delCAT p.S58delS RefSeq GRCh38/hg38
XM_011527991.2 chr19:g.17844373_17844375delTGA c.173_175delCAT p.S58delS RefSeq GRCh38/hg38
XM_011527991.3 chr19:g.17844244_17844246delGGC c.172_174delGCC p.A58delA RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17844244_17844246delGGC c.172_174delGCC p.A58delA RefSeq GRCh38/hg38
XM_005259896 chr19:g.17844373_17844375delTGA c.173_175delCAT p.S58delS RefSeq GRCh38/hg38
NM_000215 chr19:g.17844244_17844246delGGC c.172_174delGCC p.A58delA RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17844244_17844246delGGC c.172_174delGCC p.A58delA RefSeq GRCh38/hg38

Filtering

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