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Gene | JAK3 |
Variant | Q501H |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK3 Q501H does not lie within any known functional domains of the Jak3 protein (UniProt.org). Q501H confers a gain of function to Jak3, as indicated by phosphorylation of downstream Stat5, and is transforming in cell culture (PMID: 18397343, PMID: 20400977). |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 act mut JAK3 Q501H |
Transcript | NM_000215.4 |
gDNA | chr19:g.17838329C>A |
cDNA | c.1503G>T |
Protein | p.Q501H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000215.3 | chr19:g.17838329C>A | c.1503G>T | p.Q501H | RefSeq | GRCh38/hg38 |
XM_047438786.1 | chr19:g.17838329C>A | c.1503G>T | p.Q501H | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17838329C>A | c.1503G>T | p.Q501H | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17838329C>A | c.1503G>T | p.Q501H | RefSeq | GRCh38/hg38 |
XM_011527991.3 | chr19:g.17838329C>A | c.1503G>T | p.Q501H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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