AKT1: 1 Assay
The mutation assay detects the best known AKT1 mutation, c.49G>A, p.E17K. This is a PH domain mutation that results in constitutive targeting of AKT1 to plasma membrane.
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.
CTNNB1: 5 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.
EGFR: 3 Assays
The most frequently identified EGFR mutations include P-loop and activation loop point mutations, kinase domain deletions, and insertion mutations.
GNAS: 3 Assays
Mutations in this gene result in pseudohypoparathyroidism type 1a (PHP1a), which has an atypical autosomal dominant inheritance pattern requiring maternal transmission for full penetrance.
HRAS: 9 Assays
The mutation assays include the most important HRAS mutations identified in cancers at codons 12, 13, and 61.
KRAS: 11 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.
MET: 1 Assay
These assays detect the most frequently identified c-MET gain-of-function mutations, such as tyrosine kinase domain and juxtamembrane domain point mutations.
NRAS: 8 Assays
The mutation assays include the most important NRAS mutations at codons 12, 13, and 61.
PIK3CA: 14 Assays
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.
RET: 8 Assays
The mutations p.E768D, p.A883F, and p.M918T lie in the protein kinase domain and soluble RET kinase fragment. Most of the remaining mutations lie in predicted extracellular domains.
TSHR: 15 Assays
The represented mutations lie in the transmembrane region of this protein and often induce a gain-of-function by increasing basal cAMP levels but could also make the protein slightly less responsive to TSH stimulation. Other mutations lie in either cytoplasmic or extracellular domains of the protein.
View a table of the mutations, associated COSMIC IDs and assay numbers, by clicking “Mutation Table” above on the right.