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. 2022 Jan 10;10(3):228–233. doi: 10.22088/IJMCM.BUMS.10.3.227

Table 3.

Downstream effects of variants

Gene Amino acid change Type Affected region/domain & possible effect
EZH2 W15X deletion Interaction with DNMT1, DNMT3A and DNMT3B is lost
FLT3 E598DYVDFREYE insertion The region important for normal regulation of the kinase activity is lost.
NPM1 L287LCX insertion The region required for nucleolar localization is lost
RAD21 G274X deletion D->A: Abolishes cleavage by caspase-3 is lost
BCORL1 E1316 deletion Nuclear localization signal might get lost