JAK2 I540_E543delinsMK
Gene Variant Detail

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Gene JAK2
Variant I540_E543delinsMK
Impact List indel
Protein Effect unknown
Gene Variant Descriptions JAK2 I540_E543delinsMK results in a deletion of four amino acids of the Jak2 protein from amino acids 540 to 543, combined with the insertion of a methionine (M) and a lysine (K) at the same site (UniProt.org). I540_E543delinsMK has been identified in sequencing studies (PMID: 22642932, PMID: 17984312, PMID: 17914411), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2025).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 exon12 JAK2 I540_E543delinsMK

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Transcript NM_004972.4
gDNA chr9:g.5070029_5070040delinsATGAAG
cDNA c.1618_1629delinsATGAAG
Protein p.I540_E543delinsMK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194.2 chr9:g.5070029_5070040delinsATGAAG c.1618_1629delinsATGAAG p.I540_E543delinsMK RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5070029_5070040delinsATGAAG c.1618_1629delinsATGAAG p.I540_E543delinsMK RefSeq GRCh38/hg38
NM_001322194 chr9:g.5070029_5070040delinsATGAAG c.1618_1629delinsATGAAG p.I540_E543delinsMK RefSeq GRCh38/hg38
NM_001322196 chr9:g.5070029_5070040delinsATGAAG c.1618_1629delinsATGAAG p.I540_E543delinsMK RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5070029_5070040delinsATGAAG c.1618_1629delinsATGAAG p.I540_E543delinsMK RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5070029_5070040delinsATGAAG c.1618_1629delinsATGAAG p.I540_E543delinsMK RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5070029_5070040delinsATGAAG c.1618_1629delinsATGAAG p.I540_E543delinsMK RefSeq GRCh38/hg38
NM_001322195 chr9:g.5070029_5070040delinsATGAAG c.1618_1629delinsATGAAG p.I540_E543delinsMK RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5070029_5070040delinsATGAAG c.1618_1629delinsATGAAG p.I540_E543delinsMK RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5070029_5070040delinsATGAAG c.1618_1629delinsATGAAG p.I540_E543delinsMK RefSeq GRCh38/hg38
NM_004972 chr9:g.5070029_5070040delinsATGAAG c.1618_1629delinsATGAAG p.I540_E543delinsMK RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5070029_5070040delinsATGAAG c.1618_1629delinsATGAAG p.I540_E543delinsMK RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries