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Gene | JAK2 |
Variant | Y62C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 Y62C lies within the FERM domain of the Jak2 protein (UniProt.org). Y62C has not been characterized in the scientific literature and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 Y62C |
Transcript | NM_004972.4 |
gDNA | chr9:g.5022172A>G |
cDNA | c.185A>G |
Protein | p.Y62C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322194 | chr9:g.5022172A>G | c.185A>G | p.Y62C | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5022172A>G | c.185A>G | p.Y62C | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5022172A>G | c.185A>G | p.Y62C | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5022172A>G | c.185A>G | p.Y62C | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5022172A>G | c.185A>G | p.Y62C | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5022172A>G | c.185A>G | p.Y62C | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5022172A>G | c.185A>G | p.Y62C | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5022172A>G | c.185A>G | p.Y62C | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5022172A>G | c.185A>G | p.Y62C | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5022172A>G | c.185A>G | p.Y62C | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5022172A>G | c.185A>G | p.Y62C | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5022172A>G | c.185A>G | p.Y62C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
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... |
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... |