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Gene | JAK3 |
Variant | V674A |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK3 V674A lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). V674A confers a gain of function on the Jak3 protein as demonstrated by increased kinase activity (PMID: 16790275, PMID: 20400977) and the ability to transform cells in culture (PMID: 16790275, PMID: 20400977, PMID: 35411095). |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 act mut JAK3 V674A |
Transcript | NM_000215.4 |
gDNA | chr19:g.17835109A>G |
cDNA | c.2021T>C |
Protein | p.V674A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000215.3 | chr19:g.17835109A>G | c.2021T>C | p.V674A | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17835109A>G | c.2021T>C | p.V674A | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17835109A>G | c.2021T>C | p.V674A | RefSeq | GRCh38/hg38 |
XM_047438786.1 | chr19:g.17835109A>G | c.2021T>C | p.V674A | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
JAK3 V674A | gain of function | JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK3 Inhibitor JAK3 Inhibitor - ATP competitive |