JAK2 H538_K539delinsQL - Gene Variant Detail

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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 of the Jak2 protein from amino acids 538 to 539, 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
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 H538_K539delinsQL

JAK2 mutant JAK2 exon12 JAK2 H538_K539delinsQL

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Transcript NM_004972.4
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_004972.4 chr9:g.5070023_5070028delinsCAACTT c.1612_1617delinsCAACTT p.H538_K539delinsQL RefSeq GRCh38/hg38
NM_001322194.2 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_001322195.2 chr9:g.5070023_5070028delinsCAACTT c.1612_1617delinsCAACTT p.H538_K539delinsQL RefSeq GRCh38/hg38
NM_001322196.2 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_001322195.1 chr9:g.5070023_5070028delinsCAACTT c.1612_1617delinsCAACTT p.H538_K539delinsQL RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5070023_5070028delinsCAACTT c.1612_1617delinsCAACTT p.H538_K539delinsQL RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5070023_5070028delinsCAACTT c.1612_1617delinsCAACTT p.H538_K539delinsQL RefSeq GRCh38/hg38
NM_001322196 chr9:g.5070023_5070028delinsCAACTT c.1612_1617delinsCAACTT p.H538_K539delinsQL RefSeq GRCh38/hg38
NM_001322194.1 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 if any text in any cell matches the filter term
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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