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Gene | JAK3 |
Variant | A572V |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK3 A572V lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). A572V confers a gain of function to the Jak3 protein, as demonstrated by increased Jak3 autophosphorylation (PMID: 29046866), constitutive phosphorylation of Jak3 and activation of downstream Stat5 (PMID: 22705984, PMID: 35622134), and leads to cytokine-independent proliferation of cultured cells (PMID: 22705984, PMID: 28284718). |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 act mut JAK3 A572V |
Transcript | NM_000215.4 |
gDNA | chr19:g.17837200G>A |
cDNA | c.1715C>T |
Protein | p.A572V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |