JAK1 any mutation
| Gene | JAK1 |
| Variant | any |
| Transcript ID (GRCh37/hg19) | ENST00000342505 |
| Germline/Somatic? | Somatic |
Pertinent Negative In
| Tumor Type | Primary Site |
|---|
Interpretations
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Tier 2|
Variants
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Interpretation
This gene is a known cancer gene.
Last updated: 2019-08-28 14:53:59 UTC
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Variants
Primary Sites
Tumor Types
Interpretation
Activating mutations in JAK1 (SH2-, pseudokinase -and kinase- domains) have been reported in approximately 5-20% of cases of T-Cell Acute Lymphoblastic Leukemia, in "Ph-like ALL" and in less than 5% of Acute Myeloid Leukemia. Some, but not all, of these mutations have been shown to be inhibitable by ATP-competitive JAK inhibitors or Type I interferon.
Last updated: 2019-08-28 14:54:00 UTC
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