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Gene | JAK2 |
Variant | E283del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 E283del results in the deletion of an amino acid within the FERM domain of the Jak2 protein at amino acid 283 (UniProt.org). E283del has been identified in the scientific literature (PMID: 31742675, PMID: 30811597), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 E283del |
Transcript | NM_004972.4 |
gDNA | chr9:g.5054795_5054797delGAG |
cDNA | c.847_849delGAG |
Protein | p.E283del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322194.1 | chr9:g.5054795_5054797delGAG | c.847_849delGAG | p.E283del | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5054795_5054797delGAG | c.847_849delGAG | p.E283del | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5054795_5054797delGAG | c.847_849delGAG | p.E283del | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5054795_5054797delGAG | c.847_849delGAG | p.E283del | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5054795_5054797delGAG | c.847_849delGAG | p.E283del | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5054795_5054797delGAG | c.847_849delGAG | p.E283del | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5054795_5054797delGAG | c.847_849delGAG | p.E283del | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5054795_5054797delGAG | c.847_849delGAG | p.E283del | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5054795_5054797delGAG | c.847_849delGAG | p.E283del | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5054795_5054797delGAG | c.847_849delGAG | p.E283del | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5054795_5054797delGAG | c.847_849delGAG | p.E283del | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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