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The best known AKT1 mutations are c.49G>A, p.E17K, a PH domain mutation that results in constitutive targeting of AKT1 to plasma membrane, and an activating mutation, c.145G>A, p.E49K.
CDKN2A
The most important CDKN2A loss-of-function mutations occur in the consensus ankyrin domain, which lead to the inability to form stable complexes with its targets.
CTNNB1
The most frequently detected CTNNB1 mutations result in abnormal WNT signaling activity. The mutated codons are mainly several serines and threonines targeted for phosphorylation by GSK3B.
FGFR3
The most frequently identified FGFR mutations occur in their kinase domains and non-kinase extracellular domains such as the hinge regions and IgG-like domains. Some of the somatic mutations also correspond to congenital SNPs involved in genetic diseases.
HRAS
The mutation assays detect the most important HRAS variants, all found in codons 12, 13, and 61.
KRAS
The mutation assays detect the most frequently occurring KRAS mutations in codons 12, 13, and 61. Mutations at these positions reduce the protein’s intrinsic GTPase activity and/or cause it to become unresponsive to RasGAP.
NRAS
The mutation assays detect the most important NRAS variants, all found in codons 12, 13, and 61.
PIK3CA
The most frequently detected PIK3CA gain-of-function mutations occur either in the kinase domain (T1025-G1049, such as H1047L and H1047R) that increase its activity or in the helical domain (P539-E545) which mimic activation by growth factors.
TP53
The most frequently detected somatic TP53 mutations occur in the DNA-binding domain which disrupt DNA binding and/or protein structure.