Gene Variant Detail

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, Apr 2019).
Associated Drug Resistance

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Transcript NM_004972
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_001322198 chr9:g.5090526_5090531delATAGAT c.1627_1632delATAGAT p.I543_D544delID RefSeq GRCh38/hg38
NM_004972 chr9:g.5070038_5070043delGAAGAT c.1627_1632delGAAGAT p.E543_D544delED RefSeq GRCh38/hg38
NM_001322199 chr9:g.5090526_5090531delATAGAT c.1627_1632delATAGAT p.I543_D544delID RefSeq GRCh38/hg38
NM_001322196 chr9:g.5070038_5070043delGAAGAT c.1627_1632delGAAGAT p.E543_D544delED RefSeq GRCh38/hg38
NM_001322194 chr9:g.5070038_5070043delGAAGAT c.1627_1632delGAAGAT p.E543_D544delED RefSeq GRCh38/hg38
NM_001322204 chr9:g.5078387_5078392delCCTCCT c.1627_1632delCCTCCT p.P543_P544delPP RefSeq GRCh38/hg38
NM_001322195 chr9:g.5070038_5070043delGAAGAT c.1627_1632delGAAGAT p.E543_D544delED RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

Sorting

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Molecular Profile Protein Effect Treatment Approaches
JAK2 E543_D544del unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References