ABL1: 3 Assays
The mutations queried by these assays mostly lie in the protein kinase domain.
ATM: 3 Assays
The most commonly detected ATM loss-of-function mutations occur in the FAT, FATC and the kinase domains.
BRAF: 2 Assays
There are two major classes of BRAF mutations. One class leads to increased BRAF kinase activity, such as the p. V600E mutation. The other class leads to impaired kinase activity, such as the p.G469A mutation.
CDKN2A: 1 Assay
The top CDKN2A loss-of-function mutations occur in the consensus ankyrin domain, which leads to inability to form stable complexes with its targets.
CRLF2: 1 Assay
This novel gain-of-function mutation synergizes with JAK2 R683 mutations to confer cytokine-independent growth to BaF3 pro-B cells.
CTNNB1: 4 Assays
The most frequently detected CTNNB1/beta-catenin mutations result in abnormal signaling in the WNT signaling pathway. The mutated codons are mainly several serine/threonine residues targeted for phosphorylation by GSK-3beta.
EZH2: 3 Assays
All detected mutations lie in the SET domain responsible for histone lysine methyltransferase activity.
FBXW7: 4 Assays
The mutations queried by these assays lay in either the third or fourth repeat of the protein's WD40 domain, typically involved in protein-protein interactions.
FGFR3: 2 Assays
The most frequently identified mutations occur in the kinase domain and non-kinase extracellular domains such as the hinge region and IgG-like domain. Some of the somatic mutations also correspond to congenital SNPs involved in genetic diseases.
FLT3: 2 Assays
The most frequently identified FLT3 mutations include point mutations, insertion and deletion mutations in the juxtamembrane and activation domains of the protein.
HRAS: 1 Assay
The most important HRAS mutation in lymphoid neoplasms occurs at codon 61.
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: 2 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: 6 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.
NOTCH1: 8 Assays
Most of the represented mutations lie in predicted cytoplasmic domains.
NRAS: 14 Assays
The mutation assays include the most important NRAS mutations at codons 12, 13, and 61.
PIK3CA: 1 Assay
The most frequently occurring PIK3CA mutations mainly belong to two classes: gain-of-function kinase domain activating mutations and helical domain mutations that mimic activation by growth factors.
PTPN11: 4 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.
TP53: 11 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.
View a table of the mutations, associated COSMIC IDs and assay numbers, by clicking “Mutation Table” above on the right.