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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

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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_001322195.1 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_001322195 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_001322196.2 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_001322196.1 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_004972 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_004972.4 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

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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 essential thrombocythemia not applicable N/A Guideline Diagnostic JAK2 mutations aid in the diagnosis of essential thrombocythemia (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...
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...