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Gene | JAK3 |
Variant | Q507P |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK3 Q507P does not lie within any known functional domains of the Jak3 protein (UniProt.org). Q507P results in increased Stat5b phosphorylation in culture and increased transcriptional activity in a reporter assay (PMID: 24825865). |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 act mut JAK3 Q507P |
Transcript | NM_000215.4 |
gDNA | chr19:g.17838312T>G |
cDNA | c.1520A>C |
Protein | p.Q507P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000215.3 | chr19:g.17838312T>G | c.1520A>C | p.Q507P | RefSeq | GRCh38/hg38 |
XM_047438786.1 | chr19:g.17838312T>G | c.1520A>C | p.Q507P | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17838312T>G | c.1520A>C | p.Q507P | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17838312T>G | c.1520A>C | p.Q507P | RefSeq | GRCh38/hg38 |
XM_011527991.3 | chr19:g.17838312T>G | c.1520A>C | p.Q507P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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