Gene Detail

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 and melanoma (PMID: 24709888, PMID: 25510282, PMID: 26842708).
Entrez Id 23451
Chromosome 2
Map Location 2q33.1
Canonical Transcript NM_012433

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
K700E missense loss of function SF3B1 K700E lies within the HEAT repeat 5 region of the Sf3b1 protein (UniProt.org). K700E confers a loss of function to the Sf3b1 protein as indicated by aberrant mRNA splicing of Sf3b1 target genes in cell culture and knock-in animal models (PMID: 26565915, PMID: 27818134).
H1256Y missense unknown SF3B1 H1256Y does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). H1256Y has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
S71L missense unknown SF3B1 S71L does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). S71L has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
H662X missense unknown SF3B1 H662X indicates any Sf3b1 missense mutation that results in replacement of the histidine (H) at amino acid 662 by a different amino acid.
T1187M missense unknown SF3B1 T1187M lies within the HEAT repeat 11 region of the Sf3b1 protein (UniProt.org). T1187M has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
S259R missense unknown SF3B1 S259R lies within the U2AF homology and PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). S259R has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
T1112A missense unknown SF3B1 T1112A does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). T1112A has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
P370L missense unknown SF3B1 P370L lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). P370L has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
Q518R missense unknown SF3B1 Q518R does not lie within any functional domains of the Sf3b1 protein (UniProt.org). Q518R has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
R1297H missense unknown SF3B1 R1297H lies within the SF3B3 and SF3B5-interacting region of the Sf3b1 protein (UniProt.org). R1297H has not been characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
S1207L missense unknown SF3B1 S1207L does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). S1207L has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
S336* nonsense loss of function - predicted SF3B1 S336* results in a premature truncation of the Sf3b1 protein at amino acid 336 of 1304 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), S336* is predicted to lead to a loss of Sf3b1 protein function.
L1280F missense unknown SF3B1 L1280F lies within the F3B3 and SF3B5-interacting region of the Sf3b1 protein (UniProt.org). L1280F has been identified in sequencing studies (PMID: 22622578), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
R625D missense unknown SF3B1 R625D lies within the HEAT repeat 3 region of the Sf3b1 protein (UniProt.org). R625D has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
I1274F missense unknown SF3B1 I1274F does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). I1274F has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
G740E missense unknown SF3B1 G740E does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). G740E has been identified in sequencing studies (PMID: 26565915), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
L544P missense unknown SF3B1 L544P lies within the HEAT repeat 1 region of the Sf3b1 protein (UniProt.org). L544P has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
M1195V missense unknown SF3B1 M1195V lies within the HEAT repeat 11 region of the Sf3b1 protein (UniProt.org). M1195V has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
M876L missense unknown SF3B1 M876L lies within the HEAT repeat 7 region of the Sf3b1 protein (UniProt.org). M876L has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
K121M missense unknown SF3B1 K121M does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). K121M has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
K120Q missense unknown SF3B1 K120Q does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). K120Q has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
R831Q missense unknown SF3B1 R831Q does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). R831Q has been identified in sequencing studies (PMID: 26401016), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
T663P missense unknown SF3B1 T663P lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). T663P has been identified in sequencing studies (PMID: 28810145), but has not been biochemically characterized and therefore therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
Y623X missense unknown SF3B1 Y623X indicates any Sf3b1 missense mutation that results in replacement of the tyrosine (Y) at amino acid 623 by a different amino acid.
N185S missense unknown SF3B1 N185S does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). N185S has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
R625X missense unknown SF3B1 R625X indicates any Sf3b1 missense mutation that results in replacement of the arginine (R) at amino acid 625 by a different amino acid.
R292K missense unknown SF3B1 R292K lies within the U2AF homology and PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). R292K has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
S908L missense unknown SF3B1 S908L does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). S908L has not been characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
W658L missense unknown SF3B1 W658L lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). W658L has been identified in sequencing studies (PMID: 22722829), but not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
A959V missense unknown SF3B1 A959V does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). A959V has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
Q901R missense unknown SF3B1 Q901R does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). Q901R has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
R387Q missense unknown SF3B1 R387Q lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). R387Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
D781X missense unknown SF3B1 D781X indicates any Sf3b1 missense mutation that results in replacement of the aspartic acid (D) at amino acid 781 by a different amino acid.
D894G missense unknown SF3B1 D894G does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). D894G has been identified in sequencing studies (PMID: 26053404), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
A996S missense unknown SF3B1 A996S does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). A996S has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
Q473E missense unknown SF3B1 Q473E lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). Q473E has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
V1078I missense unknown SF3B1 V1078I lies within HEAT repeat 9 of the Sf3b1 protein (UniProt.org). V1078I has been demonstrated to mediate resistance to splicing modulators in culture (PMID: 21981285), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, May 2018). Y
D1175Y missense unknown SF3B1 D1175Y lies within the HEAT repeat 11 region of the Sf3b1 protein (UniProt.org). D1175Y has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
G922D missense unknown SF3B1 G922D does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). G922D has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
S541P missense unknown SF3B1 S541P lies within the HEAT repeat 1 region of the Sf3b1 protein (UniProt.org). S541P has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
V591E missense unknown SF3B1 V591E lies within the HEAT repeat 2 region of the Sf3b1 protein (UniProt.org). V591E has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
R1074H missense unknown SF3B1 R1074H lies within HEAT repeat 9 of the Sf3b1 protein (UniProt.org). R1074H has been demonstrated to mediate resistance to splicing modulators in culture (PMID: 21981285, Blood 2016 128:966), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, May 2018). Y
T520A missense unknown SF3B1 T520A does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). T520A has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, July 2018).
D894del deletion unknown SF3B1 D894del results in the deletion of one amino acid of the Sf3b1 protein at amino acid 894 (UniProt.org). D894del has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
R315L missense unknown SF3B1 R315L lies within the U2AF homology and PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). R315L has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
Y898H missense unknown SF3B1 Y898H does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). Y898H has been identified in sequencing studies (PMID: 25480502), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
N626X missense unknown SF3B1 N626X indicates any Sf3b1 missense mutation that results in replacement of the asparagine (N) at amino acid 626 by a different amino acid.
E490K missense unknown SF3B1 E490K lies within the PPP1R8 interaction region of the Sf3b1 protein (UniProt.org). E490K has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
E622X missense unknown SF3B1 E622X indicates any Sf3b1 missense mutation that results in replacement of the glutamic acid (E) at amino acid 622 by a different amino acid.
R828I missense unknown SF3B1 R828I does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). R828I has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
G740V missense unknown SF3B1 G740V does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). G740V has been identified in sequencing studies (PMID: 26565915), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
P409Q missense unknown SF3B1 P409Q lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). P409Q has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
K666T missense loss of function - predicted SF3B1 K666T lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). K666T is predicted to confer a loss of function to the Sf3b1 protein as indicated by aberrant mRNA splicing of Sf3b1 target genes in cell culture (PMID: 26842708).
R397H missense unknown SF3B1 R397H lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). R397H has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
A633V missense unknown SF3B1 A633V lies within the HEAT repeat 3 region of the Sf3b1 protein (UniProt.org). A633V has been identified in sequencing studies (PMID: 25424858), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
Q669H missense unknown SF3B1 Q669H lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). Q669H has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
I1268M missense unknown SF3B1 I1268M does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). I1268M has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
L464F missense unknown SF3B1 L464F lies within the PPP1R8-interactiong region of the Sf3b1 protein (UniProt.org). L464F has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
L1212M missense unknown SF3B1 L1212M does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). L1212M has been identified in sequencing studies (PMID: 22037554), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
R334I missense unknown SF3B1 R334I lies within the U2AF homology and PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). R334I has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
K666Q missense unknown SF3B1 K666Q lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). K666Q has been identified in sequencing studies (PMID: 27469216), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
D907Y missense unknown SF3B1 D907Y does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). D907Y has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
D255N missense unknown SF3B1 D255N lies within the RBM39 interaction region of the Sf3b1 protein (UniProt.org). D255N has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
E622Q missense unknown SF3B1 E622Q lies within the HEAT repeat 3 region of the Sf3b1 protein (UniProt.org). E622Q has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
I1073M missense unknown SF3B1 I1073M lies within the HEAT repeat 9 region of the Sf3b1 protein (UniProt.org). I1073M has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
P642L missense unknown SF3B1 P642L does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). P642L has not been characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
Y623S missense unknown SF3B1 Y623S lies within the HEAT repeat 3 region of the Sf3b1 protein (UniProt.org). Y623S has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
K666N missense loss of function - predicted SF3B1 K666N lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). K666N is predicted to confer a loss of function to the Sf3b1 protein as indicated by aberrant mRNA splicing of Sf3b1 target genes in cell culture (PMID: 26565915).
Y752C missense unknown SF3B1 Y752C does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). Y752C has not been characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
S97P missense unknown SF3B1 S97P does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). S97P has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
A713T missense unknown SF3B1 A713T lies within the HEAT repeat 5 region of the Sf3b1 protein (UniProt.org). A713T has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
K666R missense unknown SF3B1 K666R lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). K666R has not been individually characterized, however, a group of SF3B1 mutations, including K666R, was associated with a differentially expressed gene signature compared to wild-type SF3B1 in culture (PMID: 25428262).
A847V missense unknown SF3B1 A847V lies within the HEAT repeat 7 region of the Sf3b1 protein (UniProt.org). A847V has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
mutant unknown unknown SF3B1 mutant indicates an unspecified mutation in the SF3B1 gene.
H662R missense unknown SF3B1 H662R lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). H662R has been identified in sequencing studies (PMID: 28087715), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
R625H missense unknown SF3B1 R625H lies within the HEAT repeat 3 region of the Sf3b1 protein (UniProt.org). R625H has been identified in sequencing studies (PMID: 28296713), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
E902K missense unknown SF3B1 E902K does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). E902K has been identified in sequencing studies (PMID: 25303977), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
A176T missense unknown SF3B1 A176T does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). A176T has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
K357M missense unknown SF3B1 K357M lies within the PPP1R8 interaction region of the Sf3b1 protein (UniProt.org). K357M has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
K700R missense no effect SF3B1 K700R lies within the HEAT repeat 5 region of the Sf3b1 protein (UniProt.org). K700R promotes erythoid differentiation and demonstrates mRNA splicing pattern similar to wild-type SF3B1 in culture (PMID: 26565915, ASH AEE Dec 2014, Abstract #4615).
R957Q missense unknown SF3B1 R957Q does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). R957Q has been identified in sequencing studies (PMID: 29617667), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
P465S missense unknown SF3B1 P465S lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). P465S has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
G742X missense unknown SF3B1 G742X indicates any Sf3b1 missense mutation that results in replacement of the glycine (G) at amino acid 742 by a different amino acid.
D219E missense unknown SF3B1 D219E lies within the RBM39 interaction region of the Sf3b1 protein (UniProt.org). D219E has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
T663X missense unknown SF3B1 T663X indicates any Sf3b1 missense mutation that results in replacement of the threonine (T) at amino acid 663 by a different amino acid.
D1015G missense unknown SF3B1 D1015G lies within the HEAT repeat 8 region of the Sf3b1 protein (UniProt.org). D1015G has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
R939H missense unknown SF3B1 R939H does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). R939H has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
G140R missense unknown SF3B1 G140R does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). G140R has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
R625L missense unknown SF3B1 R625L lies within the HEAT repeat 3 region of the Sf3b1 protein (UniProt.org). R625L has been identified in sequencing studies (PMID: 28296713), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
R594Q missense unknown SF3B1 R594Q lies within the HEAT repeat 2 region of the Sf3b1 protein (UniProt.org). R594Q has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
R451L missense unknown SF3B1 R451L lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). R451L has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
K666E missense unknown SF3B1 K666E lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). K666E has been identified in scientific literature (PMID: 25424858), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
G740X missense unknown SF3B1 G740X indicates any Sf3b1 missense mutation that results in replacement of the glycine (G) at amino acid 740 by a different amino acid.
K700N missense gain of function - predicted SF3B1 K700N lies within the HEAT repeat 5 region of the Sf3b1 protein (UniProt.org). K700N results in induction of aberrant splicing by Sf3b1 in cultured cells (PMID: 29296742).
K741T missense unknown SF3B1 K741T does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). K741T has been identified in sequencing studies (PMID: 23337928), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
V1078A missense unknown SF3B1 V1078A lies within HEAT repeat 9 of the Sf3b1 protein (UniProt.org). V1078A has been demonstrated to mediate resistance to splicing modulators in culture (PMID: 21981285), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, May 2018). Y
R1297C missense unknown SF3B1 R1297C lies within the SF3B3 and SF3B5-interacting region of the Sf3b1 protein (UniProt.org). R1297C has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
I665F missense unknown SF3B1 I665F lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). I665F has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
R549C missense unknown SF3B1 R549C lies within the HEAT repeat 1 region of the Sf3b1 protein (UniProt.org). R549C has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
R451Q missense unknown SF3B1 R451Q lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). R451Q has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
R625C missense unknown SF3B1 R625C lies within the HEAT repeat 1 region of the Sf3b1 protein (UniProt.org). R625C has been identified in sequencing studies (PMID: 28409567), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
T7I missense unknown SF3B1 T7I does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). T7I has not been characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
I704X missense unknown SF3B1 I704X indicates any Sf3b1 missense mutation that results in replacement of the isoleucine (I) at amino acid 704 by a different amino acid.
K786Q missense unknown SF3B1 K786Q lies within the HEAT repeat 6 region of the Sf3b1 protein (UniProt.org). K786Q has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
R425Q missense unknown SF3B1 R425Q lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). R425Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
P718L missense unknown SF3B1 P718L lies within the HEAT repeat 5 region of the Sf3b1 protein (UniProt.org). P718L has been identified in sequencing studies (PMID: 21995386), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
A1047S missense unknown SF3B1 A1047S lies within the HEAT repeat 8 region of the Sf3b1 protein (UniProt.org). A1047S has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
R387W missense unknown SF3B1 R387W lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). R387W has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
E1029K missense unknown SF3B1 E1029K lies within the HEAT repeat 8 region of the Sf3b1 protein (UniProt.org). E1029K has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
R318* nonsense loss of function - predicted SF3B1 R318* results in a premature truncation of the Sf3b1 protein at amino acid 318 of 1304 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R318* is predicted to lead to a loss of Sf3b1 protein function.
K741N missense unknown SF3B1 K741N does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). K741N has been identified in the scientific literature (PMID: 26837699, PMID: 22158541), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
K700I missense unknown SF3B1 K700I lies within the HEAT repeat 5 region of the Sf3b1 protein (UniProt.org). K700I has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
K666X missense unknown SF3B1 K666X indicates any Sf3b1 missense mutation that results in replacement of the lysine (K) at amino acid 666 by a different amino acid.
W1055L missense unknown SF3B1 W1055L lies within the HEAT repeat 9 region of the Sf3b1 protein (UniProt.org). W1055L has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
P812S missense unknown SF3B1 P812S does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). P812S has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
A86T missense unknown SF3B1 A86T does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). A86T has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
I1241T missense unknown SF3B1 I1241T does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). I1241T has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
E17* missense loss of function - predicted SF3B1 E17* results in a premature truncation of the Sf3b1 protein at amino acid 17 of 1304 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E17* is predicted to lead to a loss of Sf3b1 protein function.
V422I missense unknown SF3B1 V422I lies within the PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). V422I has been identified in sequencing studies (PMID: 22722839), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
inact mut unknown loss of function SF3B1 inact mut indicates that this variant results in a loss of function of the Sf3b1 protein. However, the specific amino acid change has not been identified.
D894N missense unknown SF3B1 D894N does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). D894N has been identified in sequencing studies (PMID: 28380455), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
E1221Q missense unknown SF3B1 E1221Q does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). E1221Q has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
G83* nonsense loss of function - predicted SF3B1 G83* results in a premature truncation of the Sf3b1 protein at amino acid 83 of 1304 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), G83* is predicted to lead to a loss of Sf3b1 protein function.
G664D missense unknown SF3B1 G664D lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). G664D has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
K741Q missense unknown SF3B1 K741Q does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). K741Q has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
V701I missense unknown SF3B1 V701I lies within the HEAT repeat 5 region of the Sf3b1 protein (UniProt.org). V701I has been identified in sequencing studies (PMID: 21998214), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
R1041H missense unknown SF3B1 R1041H lies within the HEAT repeat 8 region of the Sf3b1 protein (UniProt.org). R1041H has been identified in sequencing studies (PMID: 21995386), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
Y1269F missense unknown SF3B1 Y1269F lies within the SF3B3 and SF3B5-interacting region of the Sf3b1 protein (UniProt.org). Y1269F has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
R736S missense unknown SF3B1 R736S does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). R736S has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
E862K missense unknown SF3B1 E862K lies within the HEAT repeat 7 region of the Sf3b1 protein (UniProt.org). E862K has been identified in sequencing studies (Cancer Res 2017;77(13 Suppl):Abstract nr 383), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
H662D missense unknown SF3B1 H662D lies within the HEAT repeat domain of the Sf3b1 protein (UniProt.org). H662D has been identified in sequencing studies (PMID: 28087715), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
T434A missense loss of function - predicted SF3B1 T434A lies within the PPP1R8 interaction region of the Sf3b1 protein (UniProt.org). T434A is predicted to confer a loss of function to the Sf3b1 protein, as demonstrated by a loss of Sf3b1 phosphorylation by Dyrk1a in cell culture (PMID: 16512921).
P279S missense unknown SF3B1 P279S lies within the U2AF homology and PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). P279S has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
S657F missense unknown SF3B1 S657F lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). S657F has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
A708V missense unknown SF3B1 A708V lies within the HEAT repeat 5 region of the Sf3b1 protein (UniProt.org). A708V has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
E622D missense unknown SF3B1 E622D lies within the HEAT repeat domain of the Sf3b1 protein (UniProt.org). E622D has not been individually characterized, however, a group of SF3B1 mutations, including E622D, was associated with a differentially expressed gene signature compared to wild-type Sf3b1 protein in culture (PMID: 25428262).
Q220K missense unknown SF3B1 Q220K lies within the U2AF homology and PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). Q220K has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
A284T missense unknown SF3B1 A284T lies within the RBM39 interaction region of the Sf3b1 protein (UniProt.org). A284T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
R625G missense unknown SF3B1 R625G lies within the HEAT repeat 3 region of the Sf3b1 protein (UniProt.org). R625G has been identified in sequencing studies (PMID: 28296713), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
R1245T missense unknown SF3B1 R1245T does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). R1245T has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
H662Q missense loss of function - predicted SF3B1 H662Q lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). H662Q is predicted to confer a loss of function to the Sf3b1 protein as indicated by aberrant mRNA splicing of Sf3b1 target genes in cell culture (PMID: 26565915).
A601T missense unknown SF3B1 A601T lies within the HEAT repeat 2 region of the Sf3b1 protein (UniProt.org). A601T has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
L773R missense unknown SF3B1 L773R lies within the HEAT repeat 6 region of the Sf3b1 protein (UniProt.org). L773R has not been characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
P228S missense unknown SF3B1 P228S lies within the U2AF homology region of the Sf3b1 protein (UniProt.org). P228S has been identified in sequencing studies (PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
E99G missense unknown SF3B1 E99G does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). E99G has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
M962I missense unknown SF3B1 M962I does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). M962I has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
E722K missense unknown SF3B1 E722K does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). E722K has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
G330* nonsense loss of function - predicted SF3B1 G330* results in a premature truncation of the Sf3b1 protein at amino acid 330 of 1304 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), G330* is predicted to lead to a loss of Sf3b1 protein function.
I1241M missense unknown SF3B1 I1241M does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). I1241M has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
T267N missense unknown SF3B1 T267N lies within the U2AF homology and PPP1R8-interacting region of the Sf3b1 protein (UniProt.org). T267N has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
V1169I missense unknown SF3B1 V1169I lies within the HEAT repeat 11 region of the Sf3b1 protein (UniProt.org). V1169I has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
R549fs frameshift unknown SF3B1 R549fs results in a change in the amino acid sequence of the Sf3B1 protein beginning at aa 549 of 1304, likely resulting in premature truncation of the functional protein (UniProt.org). R549fs has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
A899S missense unknown SF3B1 A899S does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). A899S has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
N626H missense unknown SF3B1 N626H lies within the HEAT repeat 3 region of the Sf3b1 protein (UniProt.org). N626H has been identified in sequencing studies (PMID: 23415222), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
G742D missense no effect - predicted SF3B1 G742D does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). G742D demonstrates similar effects on erythoid differentiation in cell culture as wild-type Sf3b1 (Cancer Res August 1, 2015 75; 2040) and therefore, is predicted to have to effect of Sf3b1 protein function.
R16* nonsense loss of function - predicted SF3B1 R16* results in a premature truncation of the Sf3b1 protein at amino acid 16 of 1304 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R16* is predicted to lead to a loss of Sf3b1 protein function.
R702W missense unknown SF3B1 R702W lies within the HEAT repeat 5 region of the Sf3b1 protein (UniProt.org). R702W has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
T916A missense unknown SF3B1 T916A does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). T916A has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
K666M missense unknown SF3B1 K666M lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). K666M has been identified in sequencing studies (PMID: 28303898), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
D781E missense unknown SF3B1 D781E lies within the HEAT repeat 6 region of the Sf3b1 protein (UniProt.org). D781E has been identified in sequencing studies (PMID: 25424858), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
K741E missense unknown SF3B1 K741E does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). K741E has has been identified in sequencing studies (PMID: 29617667), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
G241* nonsense loss of function - predicted SF3B1 G241* results in a premature truncation of the Sf3b1 protein at amino acid 241 of 1304 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), G241* is predicted to lead to a loss of Sf3b1 protein function.
W658G missense unknown SF3B1 W658G lies within the HEAT repeat 4 region of the Sf3b1 protein (UniProt.org). W658G has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
P930S missense unknown SF3B1 P930S does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). P930S has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
P135S missense unknown SF3B1 P135S does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). P135S has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, May 2016).
R568C missense unknown SF3B1 R568C lies within the HEAT repeat 1 region of the Sf3b1 protein (UniProt.org). R568C has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
I1004L missense unknown SF3B1 I1004L does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). I1004L has not been characterized in the scientific literature and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Mar 2018).
Y765C missense unknown SF3B1 Y765C lies within the HEAT repeat 6 region of the Sf3b1 protein (UniProt.org). Y765C has been identified in sequencing studies (PMID: 25424858), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
N626D missense unknown SF3B1 N626D lies within the HEAT repeat 3 region of the Sf3b1 protein (UniProt.org). N626D has been identified in sequencing studies (PMID: 25424858, PMID: 27771989), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Jul 2018).
Molecular Profile Protein Effect Treatment Approaches
SF3B1 K700E loss of function
SF3B1 H1256Y unknown
SF3B1 S71L unknown
SF3B1 H662X unknown
SF3B1 T1187M unknown
SF3B1 S259R unknown
SF3B1 T1112A unknown
SF3B1 P370L unknown
SF3B1 Q518R unknown
SF3B1 R1297H unknown
SF3B1 S1207L unknown
SF3B1 S336* loss of function - predicted
SF3B1 L1280F unknown
SF3B1 R625D unknown
SF3B1 I1274F unknown
SF3B1 G740E unknown
SF3B1 L544P unknown
SF3B1 M1195V unknown
SF3B1 M876L unknown
SF3B1 K121M unknown
SF3B1 K120Q unknown
SF3B1 R831Q unknown
SF3B1 T663P unknown
SF3B1 Y623X unknown
SF3B1 N185S unknown
SF3B1 R625X unknown
SF3B1 R292K unknown
SF3B1 S908L unknown
SF3B1 W658L unknown
SF3B1 A959V unknown
SF3B1 Q901R unknown
SF3B1 R387Q unknown
SF3B1 D781X unknown
SF3B1 D894G unknown
SF3B1 A996S unknown
SF3B1 Q473E unknown
SF3B1 V1078I unknown
SF3B1 D1175Y unknown
SF3B1 G922D unknown
SF3B1 S541P unknown
SF3B1 V591E unknown
SF3B1 R1074H unknown
SF3B1 T520A unknown
SF3B1 D894del unknown
SF3B1 R315L unknown
SF3B1 Y898H unknown
SF3B1 N626X unknown
SF3B1 E490K unknown
SF3B1 E622X unknown
SF3B1 R828I unknown
SF3B1 G740V unknown
SF3B1 P409Q unknown
SF3B1 K666T loss of function - predicted
SF3B1 R397H unknown
SF3B1 A633V unknown
SF3B1 Q669H unknown
SF3B1 I1268M unknown
SF3B1 L464F unknown
SF3B1 L1212M unknown
SF3B1 R334I unknown
SF3B1 K666Q unknown
SF3B1 D907Y unknown
SF3B1 D255N unknown
SF3B1 E622Q unknown
SF3B1 I1073M unknown
SF3B1 P642L unknown
SF3B1 Y623S unknown
SF3B1 K666N loss of function - predicted
SF3B1 Y752C unknown
SF3B1 S97P unknown
SF3B1 A713T unknown
SF3B1 K666R unknown
SF3B1 A847V unknown
SF3B1 mutant unknown
SF3B1 H662R unknown
SF3B1 R625H unknown
SF3B1 E902K unknown
SF3B1 A176T unknown
SF3B1 K357M unknown
SF3B1 K700R no effect
SF3B1 R957Q unknown
SF3B1 P465S unknown
SF3B1 G742X unknown
SF3B1 D219E unknown
SF3B1 T663X unknown
SF3B1 D1015G unknown
SF3B1 R939H unknown
SF3B1 G140R unknown
SF3B1 R625L unknown
SF3B1 R594Q unknown
SF3B1 R451L unknown
SF3B1 K666E unknown
SF3B1 G740X unknown
SF3B1 K700N gain of function - predicted
SF3B1 K741T unknown
SF3B1 V1078A unknown
SF3B1 R1297C unknown
SF3B1 I665F unknown
SF3B1 R549C unknown
SF3B1 R451Q unknown
SF3B1 R625C unknown
SF3B1 T7I unknown
SF3B1 I704X unknown
SF3B1 K786Q unknown
SF3B1 R425Q unknown
SF3B1 P718L unknown
SF3B1 A1047S unknown
SF3B1 R387W unknown
SF3B1 E1029K unknown
SF3B1 R318* loss of function - predicted
SF3B1 K741N unknown
SF3B1 K700I unknown
SF3B1 K666X unknown
SF3B1 W1055L unknown
SF3B1 P812S unknown
SF3B1 A86T unknown
SF3B1 I1241T unknown
SF3B1 E17* loss of function - predicted
SF3B1 V422I unknown
SF3B1 inact mut loss of function
SF3B1 D894N unknown
SF3B1 E1221Q unknown
SF3B1 G83* loss of function - predicted
SF3B1 G664D unknown
SF3B1 K741Q unknown
SF3B1 V701I unknown
SF3B1 R1041H unknown
SF3B1 Y1269F unknown
SF3B1 R736S unknown
SF3B1 E862K unknown
SF3B1 H662D unknown
SF3B1 T434A loss of function - predicted
SF3B1 P279S unknown
SF3B1 S657F unknown
SF3B1 A708V unknown
SF3B1 E622D unknown
SF3B1 Q220K unknown
SF3B1 A284T unknown
SF3B1 R625G unknown
SF3B1 R1245T unknown
SF3B1 H662Q loss of function - predicted
SF3B1 A601T unknown
SF3B1 L773R unknown
SF3B1 P228S unknown
SF3B1 E99G unknown
SF3B1 M962I unknown
SF3B1 E722K unknown
SF3B1 G330* loss of function - predicted
SF3B1 I1241M unknown
SF3B1 T267N unknown
SF3B1 V1169I unknown
SF3B1 R549fs unknown
SF3B1 A899S unknown
SF3B1 N626H unknown
SF3B1 G742D no effect - predicted
SF3B1 R16* loss of function - predicted
SF3B1 R702W unknown
SF3B1 T916A unknown
SF3B1 K666M unknown
SF3B1 D781E unknown
SF3B1 K741E unknown
SF3B1 G241* loss of function - predicted
SF3B1 W658G unknown
SF3B1 P930S unknown
SF3B1 P135S unknown
SF3B1 R568C unknown
SF3B1 I1004L unknown
SF3B1 Y765C unknown
SF3B1 N626D unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
SF3B1 K700E hematologic cancer sensitive E7107 Preclinical - Cell culture Actionable In a preclinical study, mouse cells expressing SF3B1 K700E demonstrated sensitivity to E7107 in culture, resulting in decreased viability of cells (PMID: 27622333). 27622333
SF3B1 K700E myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 K700E is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
SF3B1 K700E chronic myeloid leukemia sensitive H3B-8800 Preclinical - Cell line xenograft Actionable In a preclinical study, H3B-8800 inhibited tumor growth in cell line xenograft models of chronic myeloid leukemia harboring SF3B1 K700E while had no effect in SF3B1 wild-type controls (Blood 2016 128:966). detail...
SF3B1 K700E acute myeloid leukemia sensitive H3B-8800 Preclinical - Cell culture Actionable In a preclinical study, H3B-8800 preferentially inhibited growth of mouse acute myeloid leukemia cells harboring SF3B1 K700E compared to SF3B1 wild-type cells in culture (Blood 2016 128:966). detail...
SF3B1 K700E pancreatic cancer sensitive Spliceostatin A Preclinical Actionable In a preclinical study, Spliceostatin A inhibited survival of pancreatic cancer cells harboring SF3B1 K700E in culture (PMID: 25424858). 25424858
SF3B1 H662X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 H662X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
SF3B1 Y623X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 Y623X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
SF3B1 R625X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 R625X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
SF3B1 D781X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 D781X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
SF3B1 R1074H Advanced Solid Tumor resistant H3B-8800 Preclinical - Cell culture Actionable In a preclinical study, transformed cells overexpressing SF3B1 R1074H were resistant to H3B-8800 in culture (Blood 2016 128:966). detail...
SF3B1 N626X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 N626X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
SF3B1 E622X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 E622X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
SF3B1 K666N endometrial cancer sensitive Spliceostatin A Preclinical Actionable In a preclinical study, Spliceostatin A inhibited survival of endometrial cancer cells harboring SF3B1 K666N in culture (PMID: 25424858). 25424858
SF3B1 mutant essential thrombocythemia not applicable N/A Guideline Prognostic The presence of at least one mutation in either SH2B3, IDH2, U2AF1, SF3B1, EZH2, or TP53 is associated with inferior overall survival in patients with essential thrombocythemia (NCCN.org). detail...
SF3B1 mutant myelodysplastic syndrome not applicable N/A Clinical Study Prognostic In multiple clinical studies, SF3B1 mutations were associated with better overall survival in patients with myelodysplastic syndrome (PMID: 21998214, PMID: 22096241, PMID: 24220272), but may not have independent prognostic significance (PMID: 22096241). 22096241 21998214 24220272
SF3B1 G742X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 G742X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
SF3B1 T663X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 T663X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
SF3B1 G740X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 G740X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). 10
SF3B1 I704X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 I704X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
SF3B1 K666X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 K666X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...