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Gene JAK2
Variant G993A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 G993A lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). G993A has been demonstrated to occur as a secondary drug resistance mutation in the context of JAK2 fusions in cultured cells (PMID: 34376782), and is not transforming in culture (PMID: 34376782), but has not been fully biochemically characterized and therefore, its effect on Jak2 protein function is unknown.
Associated Drug Resistance Y
Category Variants Paths

JAK2 mutant JAK2 G993A

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Transcript NM_004972.4
gDNA chr9:g.5090830G>C
cDNA c.2978G>C
Protein p.G993A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322195.2 chr9:g.5090830G>C c.2978G>C p.G993A RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5090830G>C c.2978G>C p.G993A RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5090830G>C c.2978G>C p.G993A RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5090830G>C c.2978G>C p.G993A RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5090830G>C c.2978G>C p.G993A RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5090830G>C c.2978G>C p.G993A RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5090830G>C c.2978G>C p.G993A RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5090830G>C c.2978G>C p.G993A 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")

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