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Gene | JAK3 |
Variant | E1106G |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | JAK3 E1106G lies within the protein kinase domain 2 of the Jak3 protein (UniProt.org). E1106G demonstrates phosphorylation of Jak3 similar to wild-type protein and is not transforming in cell culture (PMID: 25193870). |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 E1106G |
Transcript | NM_000215.4 |
gDNA | chr19:g.17826801T>C |
cDNA | c.3317A>G |
Protein | p.E1106G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000215.3 | chr19:g.17826801T>C | c.3317A>G | p.E1106G | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17826801T>C | c.3317A>G | p.E1106G | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17826801T>C | c.3317A>G | p.E1106G | RefSeq | GRCh38/hg38 |
XM_047438786.1 | chr19:g.17826801T>C | c.3317A>G | p.E1106G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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