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Gene | JAK3 |
Variant | E567R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK3 E567R lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). E567R has no effect on Stat5 activity in combination with R657Q and is unable to reduce Jak1 V658K-driven activation of Stat5 in in vitro assays (PMID: 31892268), but has not been characterized individually and therefore, its effect on Jak3 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 E567R |
Transcript | NM_000215.4 |
gDNA | chr19:g.17837933_17837934delGAinsAG |
cDNA | c.1699_1700delGAinsAG |
Protein | p.E567R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047438786.1 | chr19:g.17837933_17837934delGAinsAG | c.1699_1700delGAinsAG | p.E567R | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17837933_17837934delTCinsCT | c.1699_1700delGAinsAG | p.E567R | RefSeq | GRCh38/hg38 |
XM_011527991.3 | chr19:g.17837933_17837934delGAinsAG | c.1699_1700delGAinsAG | p.E567R | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.17837933_17837934delGAinsAG | c.1699_1700delGAinsAG | p.E567R | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17837933_17837934delGAinsAG | c.1699_1700delGAinsAG | p.E567R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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