Gene Variant Detail

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Gene JAK2
Variant E283del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions JAK2 E283del results in the deletion of one 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, Feb 2020).
Associated Drug Resistance

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Transcript NM_004972
gDNA chr9:g.5054795_5054797delGAG
cDNA c.847_849delGAG
Protein p.E283delE
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194 chr9:g.5054795_5054797delGAG c.847_849delGAG p.E283delE RefSeq GRCh38/hg38
NM_001322198 chr9:g.5078376_5078378delAGA c.848_850delAGA p.K283delK RefSeq GRCh38/hg38
NM_001322196 chr9:g.5054795_5054797delGAG c.847_849delGAG p.E283delE RefSeq GRCh38/hg38
NM_004972 chr9:g.5054795_5054797delGAG c.847_849delGAG p.E283delE RefSeq GRCh38/hg38
NM_001322195 chr9:g.5054795_5054797delGAG c.847_849delGAG p.E283delE RefSeq GRCh38/hg38
NM_001322199 chr9:g.5078376_5078378delAGA c.848_850delAGA p.K283delK RefSeq GRCh38/hg38
NM_001322204 chr9:g.5066757_5066759delTTT c.847_849delTTT p.F283delF RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
JAK2 E283del unknown