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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

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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_001322196.2 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
NM_001322196.1 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_001322194.1 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_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_001322195.1 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_004972.4 chr9:g.5054795_5054797delGAG c.847_849delGAG p.E283del RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References