Splicing Machinery | Mutation | References |
---|---|---|
SF3B1 (Splicing Factor 3b Subunit 1) | P342T L415P R625C H662Q K666R Q699_K700delinsHE K700E N763S K843R L773R K741K K946T | |
SF3A1 (Splicing Factor 3a Subunit 1) | S58I | |
U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) | A47V S34F | |
U2AF2 (U2 Small Nuclear RNA Auxiliary Factor 2) | Â | |
SRSF1 (Serine And Arginine Rich Splicing Factor 1) | Â | |
PRPF40B (Pre-MRNA Processing Factor 40 Homolog B) | L265M | |
SF1 (Splicing Factor 1) | R380Q R662* Q269_P273del | |
RBM6 (RNA Binding Motif Protein 6) | Â | |
PABPC1 (PolyA Binding Protein Cytoplasmic 1) | M158Nfs*8 D165G E345* E345K L562S T319I P402L F335Lfs*19I R475Q R481C | |
RBMX (RNA Binding Motif Protein X-Linked) | D312N P106Ffs*32 A78T R341W |