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. 2018 May 2;131(26):2877–2890. doi: 10.1182/blood-2018-03-839753

Table 1.

Summary of kinase mutations discovered in RDD

Gene Genetic alteration Amino acid variant Protein domain Discovery year Reference
ARAF Missense p.N217K CR2 domain 2016 10
MAP2K1 Missense p.F53V N-terminal negative regulatory 2017 13
MAP2K1 Missense p.L115V N-terminal catalytic core of kinase 2017 14
MAP2K1 Missense p.P124R N-terminal catalytic core of kinase 2017 13
MAP2K1 Missense p.G128D N-terminal catalytic core of kinase 2017 13
NRAS Missense p.G13D P-loop and GTP-binding 1 2016 10
KRAS Missense p.G12D P-loop and GTP-binding 1 2016 10
KRAS Missense p.G12R P-loop and GTP-binding 1 2017 101
KRAS Missense p.Q22K GTP-binding 1 2017 13
KRAS Missense p.K117N GTP-binding 3 2016 11
KRAS Missense p.A146T GTP-binding 4 2017 13
KRAS Missense p.A146V GTP-binding 4 2017 12