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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, PMID: 16879967), 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_001322196.1 | 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_001322196 | 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 |
NM_001322196.2 | 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_001322195 | 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_001322194.2 | 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_001322194 | 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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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