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Gene | JAK3 |
Variant | R172Q |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK3 R172Q lies within the FERM domain of the Jak3 protein (UniProt.org). R172Q confers a gain of function to the Jak3 protein as demonstrated by constitutive autophosphorylation of Jak3 and increased phosphorylation of Stat5a, and is transforming in cultured cells (PMID: 21821710). |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 act mut JAK3 R172Q |
Transcript | NM_000215.4 |
gDNA | chr19:g.17843078C>T |
cDNA | c.515G>A |
Protein | p.R172Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011527991.3 | chr19:g.17843078C>T | c.515G>A | p.R172Q | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.17843078C>T | c.515G>A | p.R172Q | RefSeq | GRCh38/hg38 |
XM_047438786.1 | chr19:g.17843078C>T | c.515G>A | p.R172Q | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17843078C>T | c.515G>A | p.R172Q | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17843078C>T | c.515G>A | p.R172Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
JAK3 mutant | B-cell acute lymphoblastic leukemia | not applicable | N/A | Guideline | Prognostic | JAK3 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). | detail... |
JAK3 mutant | childhood B-cell acute lymphoblastic leukemia | not applicable | N/A | Guideline | Prognostic | JAK3 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). | detail... |