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Gene | JAK3 |
Variant | Q507R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK3 Q507R does not lie within any known functional domains of the Jak3 protein (UniProt.org). Q507R has not been characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 Q507R |
Transcript | NM_000215.4 |
gDNA | chr19:g.17838312T>C |
cDNA | c.1520A>G |
Protein | p.Q507R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000215.4 | chr19:g.17838312T>C | c.1520A>G | p.Q507R | RefSeq | GRCh38/hg38 |
XM_047438786.1 | chr19:g.17838312T>C | c.1520A>G | p.Q507R | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17838312T>C | c.1520A>G | p.Q507R | RefSeq | GRCh38/hg38 |
XM_011527991.3 | chr19:g.17838312T>C | c.1520A>G | p.Q507R | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.17838312T>C | c.1520A>G | p.Q507R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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