Table 1.
Gene | Mutation | Affected domain/Functional consequence | References |
---|---|---|---|
VAV1 | SNV | Activating | 5, 32 |
Fusion | Truncation of SH3 domain in VAV1-GSS and VAV1-MYO1F fusions; increased RAC activation | 30 | |
RHOA | SNV | G17V in GTP binding domain; dominant negative function | 35–37 |
FYN | SNV | SH2 domain; activating through loss of inhibitory SH2 domain and Y531 interaction | 5, 32, 36 |
CD28 | SNV | D124, T195; activation of NF-κB and TCR signaling | 32, 48, 49 |
Fusion | CTLA4-CD28 and ICOS-CD28 | 5, 32, 48, 50 | |
LCK | SNV | Predicted activating | 5 |
PLCG1 | SNV | MALT1 and NFAT activation | 5, 32, 41 |
KRAS | SNV | Activating | 5, 43 |
SNV, single nucleotide variant; TCR, T-cell receptor.