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Gene | JAK2 |
Variant | S523L |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK2 S523L lies within a linker region of the Jak2 protein (PMID: 29685781). S523L results in impaired phosphorylation of Jak2 at S523, a site that negatively regulates Jak2 activity, and demonstrates increased cytokine-independent phosphorylation of Jak2 and Stat5 and cytokine-independent growth in cell culture (PMID: 32956452). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 act mut JAK2 S523L JAK2 mutant JAK2 exon12 JAK2 S523L |
Transcript | NM_004972.4 |
gDNA | chr9:g.5069979C>T |
cDNA | c.1568C>T |
Protein | p.S523L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322195.1 | chr9:g.5069979C>T | c.1568C>T | p.S523L | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5069979C>T | c.1568C>T | p.S523L | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5069979C>T | c.1568C>T | p.S523L | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5069979C>T | c.1568C>T | p.S523L | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5069979C>T | c.1568C>T | p.S523L | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5069979C>T | c.1568C>T | p.S523L | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5069979C>T | c.1568C>T | p.S523L | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5069979C>T | c.1568C>T | p.S523L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
JAK2 exon12 | polycythemia vera | not applicable | N/A | Guideline | Diagnostic | JAK2 exon 12 mutations aid in the diagnosis of polycythemia vera (NCCN.org). | detail... |
JAK2 mutant | essential thrombocythemia | not applicable | N/A | Guideline | Diagnostic | JAK2 mutations aid in the diagnosis of essential thrombocythemia (NCCN.org). | detail... |
JAK2 mutant | B-cell acute lymphoblastic leukemia | not applicable | N/A | Guideline | Prognostic | JAK2 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). | detail... |
JAK2 mutant | myelofibrosis | not applicable | N/A | Guideline | Diagnostic | JAK2 mutations aid in the diagnosis of primary myelofibrosis (NCCN.org). | detail... |
JAK2 mutant | childhood B-cell acute lymphoblastic leukemia | not applicable | N/A | Guideline | Prognostic | JAK2 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). | detail... |