JAK2 T108A
Gene Variant Detail

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Gene JAK2
Variant T108A
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 T108A lies within the FERM domain of the Jak2 protein (UniProt.org). T108A is predicted to confer a gain of function to the Jak2 protein, as demonstrated by increased transcriptional activity of Stat1, 3, and 5, and ligand-dependent increased cell viability as compared to wild-type (PMID: 27647865).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 T108A

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Transcript NM_004972.4
gDNA chr9:g.5029878A>G
cDNA c.322A>G
Protein p.T108A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194 chr9:g.5029878A>G c.322A>G p.T108A RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5029878A>G c.322A>G p.T108A RefSeq GRCh38/hg38
NM_001322196 chr9:g.5029878A>G c.322A>G p.T108A RefSeq GRCh38/hg38
NM_004972 chr9:g.5029878A>G c.322A>G p.T108A RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5029878A>G c.322A>G p.T108A RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5029878A>G c.322A>G p.T108A RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5029878A>G c.322A>G p.T108A RefSeq GRCh38/hg38
NM_001322195 chr9:g.5029878A>G c.322A>G p.T108A RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5029878A>G c.322A>G p.T108A RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5029878A>G c.322A>G p.T108A RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5029878A>G c.322A>G p.T108A RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5029878A>G c.322A>G p.T108A 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

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