Gene Detail

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Gene Symbol SF3B1
Synonyms Hsh155 | MDS | PRP10 | PRPF10 | SAP155 | SF3b155
Gene Description SF3B1, splicing factor 3b, subunit 1, is a core member of the U2 small nuclear ribonucleoprotein complex of the spliceosome which mediates the splicing of genes involved in myelodysplastic syndrome (MDS) pathogenesis (PMID: 25510282, PMID: 26842708). Mutations in SF3B1 are frequent in MDS and have also been identified in chronic lymphocytic leukemia, melanoma, and breast cancer (PMID: 24709888, PMID: 25510282, PMID: 26842708, PMID: 32112088, PMID: 32303702).

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Molecular Profile Protein Effect Treatment Approaches
SF3B1 A1047S unknown
SF3B1 A176T unknown
SF3B1 A284T unknown
SF3B1 A601T unknown
SF3B1 A633V unknown
SF3B1 A708V unknown
SF3B1 A713T unknown
SF3B1 A847V unknown
SF3B1 A86T unknown
SF3B1 A899S unknown
SF3B1 A959V unknown
SF3B1 A996S unknown
SF3B1 D1015G unknown
SF3B1 D1175Y unknown
SF3B1 D219E unknown
SF3B1 D255N unknown
SF3B1 D781E unknown
SF3B1 D781G unknown
SF3B1 D781X unknown
SF3B1 D894del unknown
SF3B1 D894G unknown
SF3B1 D894N unknown
SF3B1 D907Y unknown
SF3B1 E1029K unknown
SF3B1 E1221Q unknown
SF3B1 E17* loss of function - predicted
SF3B1 E490K unknown
SF3B1 E622D loss of function
SF3B1 E622Q unknown
SF3B1 E622X unknown
SF3B1 E722K unknown
SF3B1 E862K unknown
SF3B1 E902K unknown
SF3B1 E99G unknown
SF3B1 G140R unknown
SF3B1 G241* loss of function - predicted
SF3B1 G330* loss of function - predicted
SF3B1 G664D unknown
SF3B1 G740E unknown
SF3B1 G740V unknown
SF3B1 G740X unknown
SF3B1 G742D no effect - predicted
SF3B1 G742X unknown
SF3B1 G83* loss of function - predicted
SF3B1 G922D unknown
SF3B1 H1256Y unknown
SF3B1 H662D unknown
SF3B1 H662Q loss of function
SF3B1 H662R unknown
SF3B1 H662X unknown
SF3B1 I1004L unknown
SF3B1 I1073M unknown
SF3B1 I1241M unknown
SF3B1 I1241T unknown
SF3B1 I1268M unknown
SF3B1 I1274F unknown
SF3B1 I665F unknown
SF3B1 I704X unknown
SF3B1 inact mut loss of function
SF3B1 K120Q unknown
SF3B1 K121M unknown
SF3B1 K357M unknown
SF3B1 K666E loss of function - predicted
SF3B1 K666M unknown
SF3B1 K666N loss of function
SF3B1 K666Q unknown
SF3B1 K666R unknown
SF3B1 K666T loss of function - predicted
SF3B1 K666X unknown
SF3B1 K700E loss of function
RUNX1 rearrange SF3B1 K700E
SF3B1 K700I unknown
SF3B1 K700N gain of function - predicted
SF3B1 K700R no effect
SF3B1 K700X unknown
SF3B1 K741E unknown
SF3B1 K741N unknown
SF3B1 K741Q unknown
SF3B1 K741T unknown
SF3B1 K741X unknown
SF3B1 K786Q unknown
SF3B1 L1212M unknown
SF3B1 L1280F unknown
SF3B1 L464F unknown
SF3B1 L544P unknown
SF3B1 L773R unknown
SF3B1 M1195V unknown
SF3B1 M757T unknown
SF3B1 M876L unknown
SF3B1 M962I unknown
SF3B1 mutant unknown
SF3B1 N185S unknown
SF3B1 N626D unknown
SF3B1 N626H unknown
SF3B1 N626X unknown
SF3B1 P135S unknown
SF3B1 P228S unknown
SF3B1 P279S unknown
SF3B1 P370L unknown
SF3B1 P409Q unknown
SF3B1 P465S unknown
SF3B1 P642L unknown
SF3B1 P718L unknown
SF3B1 P812S unknown
SF3B1 P930S unknown
SF3B1 Q220K unknown
SF3B1 Q473E unknown
SF3B1 Q518R unknown
SF3B1 Q669H unknown
SF3B1 Q901R unknown
SF3B1 R1041H unknown
SF3B1 R1074H unknown
SF3B1 R1245T unknown
SF3B1 R1297C unknown
SF3B1 R1297H unknown
SF3B1 R16* loss of function - predicted
SF3B1 R292K unknown
SF3B1 R315L unknown
SF3B1 R318* loss of function - predicted
SF3B1 R334I unknown
SF3B1 R387Q unknown
SF3B1 R387W unknown
SF3B1 R397H unknown
SF3B1 R425Q unknown
SF3B1 R451L unknown
SF3B1 R451Q unknown
SF3B1 R549C unknown
SF3B1 R549fs unknown
SF3B1 R568C unknown
SF3B1 R594Q unknown
SF3B1 R625C loss of function
SF3B1 R625D unknown
SF3B1 R625G loss of function - predicted
SF3B1 R625H loss of function - predicted
SF3B1 R625L unknown
SF3B1 R625X unknown
SF3B1 R702W unknown
SF3B1 R736S unknown
SF3B1 R828I unknown
SF3B1 R831Q unknown
SF3B1 R939H unknown
SF3B1 R957Q unknown
SF3B1 S1207L unknown
SF3B1 S259R unknown
SF3B1 S336* loss of function - predicted
SF3B1 S541P unknown
SF3B1 S657F unknown
SF3B1 S71L unknown
SF3B1 S908L unknown
SF3B1 S97P unknown
SF3B1 T1112A unknown
SF3B1 T1187M unknown
SF3B1 T267N unknown
SF3B1 T434A loss of function - predicted
SF3B1 T520A unknown
SF3B1 T663I unknown
SF3B1 T663P unknown
SF3B1 T663X unknown
SF3B1 T7I unknown
SF3B1 T916A unknown
SF3B1 V1078A unknown
SF3B1 V1078I unknown
SF3B1 V1169I unknown
SF3B1 V422I unknown
SF3B1 V591E unknown
SF3B1 V701I unknown
SF3B1 V701X unknown
SF3B1 W1055L unknown
SF3B1 W658G unknown
SF3B1 W658L unknown
SF3B1 wild-type no effect
SF3B1 Y1269F unknown
SF3B1 Y623S unknown
SF3B1 Y623X unknown
SF3B1 Y752C unknown
SF3B1 Y765C unknown
SF3B1 Y898H unknown