Gene Variant Detail

Gene JAK2
Variant H538_K539delinsQL
Impact List indel
Protein Effect gain of function
Gene Variant Descriptions JAK2 H538_K539delinsQL results in a deletion of two amino acids from amino acids 538 to 539 of the Jak2 protein, combined with the insertion of a glutamine (Q) and a leucine (L) at the same site (UniProt.org). H538_K539delinsQL results in Jak2 autophosphorylation, increased Erk phosphorylation and cell proliferation in culture (PMID: 17267906).
Associated Drug Resistance

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Transcript NM_004972
gDNA chr9:g.5070023_5070028delinsCAACTT
cDNA c.1612_1617delinsCAACTT
Protein p.H538_K539delinsQL
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196 chr9:g.5070023_5070028delinsCAACTT c.1612_1617delinsCAACTT p.H538_K539delinsQL RefSeq GRCh38/hg38
NM_001322195 chr9:g.5070023_5070028delinsCAACTT c.1612_1617delinsCAACTT p.H538_K539delinsQL RefSeq GRCh38/hg38
NM_004972 chr9:g.5070023_5070028delinsCAACTT c.1612_1617delinsCAACTT p.H538_K539delinsQL RefSeq GRCh38/hg38
NM_001322194 chr9:g.5070023_5070028delinsCAACTT c.1612_1617delinsCAACTT p.H538_K539delinsQL 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"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References