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Gene | JAK2 |
Variant | V881fs |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 V881fs results in a change in the amino acid sequence of the Jak2 protein beginning at aa 881 of 1132, likely resulting in premature truncation of the functional protein (UniProt.org). V881fs has not been characterized in the scientific literature and therefore, its effect on Jak2 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 V881fs |
Transcript | NM_004972.4 |
gDNA | chr9:g.(5089742_5089743) |
cDNA | c.(2641_2640) |
Protein | p.V881fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322194.2 | chr9:g.(5089742_5089743) | c.(2641_2640) | p.V881fs | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.(5089742_5089743) | c.(2641_2640) | p.V881fs | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.(5089742_5089743) | c.(2641_2640) | p.V881fs | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.(5089742_5089743) | c.(2641_2640) | p.V881fs | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.(5089742_5089743) | c.(2641_2640) | p.V881fs | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.(5089742_5089743) | c.(2641_2640) | p.V881fs | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.(5089742_5089743) | c.(2641_2640) | p.V881fs | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.(5089742_5089743) | c.(2641_2640) | p.V881fs | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.(5089742_5089743) | c.(2641_2640) | p.V881fs | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.(5089742_5089743) | c.(2641_2640) | p.V881fs | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.(5089742_5089743) | c.(2641_2640) | p.V881fs | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.(5089742_5089743) | c.(2641_2640) | p.V881fs | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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