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Gene | JAK2 |
Variant | L609fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | JAK2 L609fs results in a change in the amino acid sequence of the Jak2 protein beginning at aa 609 of 1132, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most of protein kinase domain 1 and all of protein kinase domain 2 (UniProt.org), L609fs is predicted to lead to a loss of Jak2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 inact mut JAK2 L609fs |
Transcript | NM_004972.4 |
gDNA | chr9:g.(5073745_5073746) |
cDNA | c.(1825_1824) |
Protein | p.L609fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004972.4 | chr9:g.(5073745_5073746) | c.(1825_1824) | p.L609fs | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.(5073745_5073746) | c.(1825_1824) | p.L609fs | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.(5073745_5073746) | c.(1825_1824) | p.L609fs | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.(5073745_5073746) | c.(1825_1824) | p.L609fs | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.(5073745_5073746) | c.(1825_1824) | p.L609fs | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.(5073745_5073746) | c.(1825_1824) | p.L609fs | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.(5073745_5073746) | c.(1825_1824) | p.L609fs | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.(5073745_5073746) | c.(1825_1824) | p.L609fs | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.(5073745_5073746) | c.(1825_1824) | p.L609fs | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.(5073745_5073746) | c.(1825_1824) | p.L609fs | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.(5073745_5073746) | c.(1825_1824) | p.L609fs | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.(5073745_5073746) | c.(1825_1824) | p.L609fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
JAK2 inact mut | melanoma | predicted - resistant | Pembrolizumab | Case Reports/Case Series | Actionable | In a clinical study, a melanoma patient treated with Keytruda (pembrolizumab) initially demonstrated a partial response, however, post 734 days developed disease progression due to a splice site mutation in JAK2, which resulted in an intron inclusion and an early stop codon, leading to a loss of protein expression (PMID: 27433843). | 27433843 |
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 | essential thrombocythemia | not applicable | N/A | Guideline | Diagnostic | JAK2 mutations aid in the diagnosis of essential thrombocythemia (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... |
JAK2 mutant | myelofibrosis | not applicable | N/A | Guideline | Diagnostic | JAK2 mutations aid in the diagnosis of primary myelofibrosis (NCCN.org). | detail... |