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Gene | JAK3 |
Variant | R402H |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | JAK3 R402H lies within the SH2 domain of the Jak3 protein (UniProt.org). R402H demonstrates altered subcellular localization and failure to properly localize the common gamma chain to the cell membrane in culture (PMID: 15143194), and therefore, is predicted to lead to a loss of Jak3 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 inact mut JAK3 R402H |
Transcript | NM_000215.4 |
gDNA | chr19:g.17840279C>T |
cDNA | c.1205G>A |
Protein | p.R402H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047438786.1 | chr19:g.17840279C>T | c.1205G>A | p.R402H | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.17840279C>T | c.1205G>A | p.R402H | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17840279C>T | c.1205G>A | p.R402H | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17840279C>T | c.1205G>A | p.R402H | RefSeq | GRCh38/hg38 |
XM_011527991.3 | chr19:g.17840279C>T | c.1205G>A | p.R402H | 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... |