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Gene | JAK3 |
Variant | K550N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK3 K550N lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). K550N has been identified in the scientific literature (PMID: 32639993), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2024). |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 K550N |
Transcript | NM_000215.4 |
gDNA | chr19:g.17837983C>G |
cDNA | c.1650G>C |
Protein | p.K550N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000215.3 | chr19:g.17837983C>G | c.1650G>C | p.K550N | RefSeq | GRCh38/hg38 |
XM_011527991.3 | chr19:g.17837983C>G | c.1650G>C | p.K550N | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17837983C>G | c.1650G>C | p.K550N | RefSeq | GRCh38/hg38 |
XM_047438786.1 | chr19:g.17837983C>G | c.1650G>C | p.K550N | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17837983C>G | c.1650G>C | p.K550N | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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