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Gene JAK2
Variant E543_D544del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions JAK2 E543_D544del results in the deletion of two amino acids of the Jak2 protein from amino acids 543 to 544 (UniProt.org). E543_D544del has been identified in the scientific literature (PMID: 27410038, PMID: 26361084, PMID: 17984312), 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 exon12 JAK2 E543_D544del

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Transcript NM_004972.4
gDNA chr9:g.5070038_5070043delGAAGAT
cDNA c.1627_1632delGAAGAT
Protein p.E543_D544delED
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196.2 chr9:g.5070038_5070043delGAAGAT c.1627_1632delGAAGAT p.E543_D544delED RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5070038_5070043delGAAGAT c.1627_1632delGAAGAT p.E543_D544del RefSeq GRCh38/hg38
NM_001322195 chr9:g.5070038_5070043delGAAGAT c.1627_1632delGAAGAT p.E543_D544del RefSeq GRCh38/hg38
NM_004972 chr9:g.5070038_5070043delGAAGAT c.1627_1632delGAAGAT p.E543_D544del RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5070038_5070043delGAAGAT c.1627_1632delGAAGAT p.E543_D544delED RefSeq GRCh38/hg38
NM_001322196 chr9:g.5070038_5070043delGAAGAT c.1627_1632delGAAGAT p.E543_D544del RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5070038_5070043delGAAGAT c.1627_1632delGAAGAT p.E543_D544del RefSeq GRCh38/hg38
NM_001322198.2 chr9:g.5090526_5090531delATAGAT c.1627_1632delATAGAT p.I543_D544delID RefSeq GRCh38/hg38
NM_001322194 chr9:g.5070038_5070043delGAAGAT c.1627_1632delGAAGAT p.E543_D544del RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5070038_5070043delGAAGAT c.1627_1632delGAAGAT p.E543_D544del RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5070038_5070043delGAAGAT c.1627_1632delGAAGAT p.E543_D544delED RefSeq GRCh38/hg38
NM_001322204.2 chr9:g.5078387_5078392delCCTCCT c.1627_1632delCCTCCT p.P543_P544delPP RefSeq GRCh38/hg38
NM_001322199.2 chr9:g.5090526_5090531delATAGAT c.1627_1632delATAGAT p.I543_D544delID RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5070038_5070043delGAAGAT c.1627_1632delGAAGAT p.E543_D544del RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5070038_5070043delGAAGAT c.1627_1632delGAAGAT p.E543_D544delED RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • 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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Molecular Profile Protein Effect Treatment Approaches
JAK2 E543_D544del unknown