ABL1: 4 Assays
The mutations queried by these assays mostly lie in the protein kinase domain.
CEBPA: 7 Assays
The p.K304_Q305insL mutation lies in the DNA binding basic motif of the protein.
CSF1R: 1 Assay
This mutation near the C-terminus that corresponds to SNP variant rs1801271 abolishes the down-regulation of activated CSF1R.
FLT3: 3 Assays
The most frequently identified FLT3 mutations include point mutations, insertion and deletion mutations in the juxtamembrane and activation domains of the protein.
GATA1: 3 Assays
GATA1 plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia.
GATA2: 1 Assay
GATA2 is a negative regulator of hematopoietic stem cell and progenitor cell differentiation. This mutation lies within the second zinc finger domain and causes a gain-of-function that increases transactivation activity and enhances inhibition of PU.1 activity, a major regulator of myelopoiesis.
IDH1: 4 Assays
Most of these mutations abolish magnesium binding and alters the enzyme's activity to convert alpha-ketoglutarate into R(-)-2-hydroxyglutarate instead of isocitrate into alpha-ketoglutarate.
IDH2: 2 Assays
These mutations all lie in the substrate binding domain, and one (p.R140Q) is associated with D-2-hydroxyglutaric aciduria.
JAK2: 3 Assays
Most of these mutations lie in protein kinase domain 1. One mutation (p.V615F) confers cytokine-independent growth to BaF3 pro-B cells. Mutations at R683 lead to constitutive tyrosine phosphorylation activity promoting cytokine hypersensitivity and are associated with susceptibility to Budd-Chiari syndrome.
KIT: 3 Assays
The most frequently identified KIT gain-of-function mutations include the D816V point mutation, the exon 11 (juxtamembrane domain) deletion and point mutations, an exon 9 insertion mutation, and exon 13 point mutations.
KRAS: 5 Assays
The mutation assays include the most frequently occurring mutations in KRAS codons 12, 13, and 61. Mutations at these positions result in reduced intrinsic GTPase activity and/or cause KRAS to become unresponsive to RasGAP.
MPL: 3 Assays
These mutations are predicted to lie at a junction between a transmembrane helix and a cytoplasmic domain.
NPM1: 5 Assays
NPM1 encodes a phosphoprotein that shuttles between the nucleus and the cytoplasm and is thought to be involved in regulation of the ARF/p53 pathway. A number of gene fusion events with NPM1 have been characterized, in particular the anaplastic lymphoma kinase gene on chromosome 2. Mutations in this gene are associated with acute myeloid leukemia.
NRAS: 15 Assays
The mutation assays include the most important NRAS mutations at codons 12, 13, and 61.
PTPN11: 11 Assays
The most frequently identified PTPN11 mutations include lesions affecting residues located in or close to the N-terminal SH2 domain/PTP-interacting surface and mutations that affect residues that control substrate specificity.
RUNX1: 2 Assays
RUNX is the alpha subunit of the core binding factor that is thought to be involved in normal hematopoiesis. Chromosomal translocations involving this gene have been associated with several types of leukemia.
TP53: 2 Assays
The most frequently detected somatic mutations in TP53 are largely composed of DNA-binding domain mutations which disrupt either DNA binding or protein structure.
WT1: 2 Assays
The WT1 transcription factor plays an essential role in normal urogenital system development. A small subset of patients with Wilm's tumors contains mutations in this gene.
View a table of the mutations, associated COSMIC IDs and assay numbers, by clicking “Mutation Table” above on the right.