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Gene Symbol SRSF2
Synonyms PR264 | SC-35 | SC35 | SFRS2 | SFRS2A | SRp30b
Gene Description SRSF2, serine and arginine rich splicing factor 2, functions in exon recognition as part of the spiceosome protein complex during pre-mRNA splicing, and therefore regulates the expression of EZH2 and other genes involved in cell survival (PMID: 28986033). SRSFR2 mutations that disrupt mRNA splicing (PMID: 29858584) have been associated with shorter overall survival in myelodysplastic syndrome and other myeloid malignancies (PMID: 24523246, PMID: 25510282, PMID: 30275952, PMID: 32303702).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
amp none no effect SRSF2 amplification indicates an increased number of copies of the SRSF2 gene. However, the mechanism causing the increase is unspecified.
del deletion loss of function SRSF2 del indicates a deletion of the SRSF2 gene.
E35Q missense unknown SRSF2 E35Q lies within the RRM domain of the Srsf2 protein (UniProt.org). E35Q has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
E69G missense unknown SRSF2 E69G lies within the RRM domain of the Srsf2 protein (UniProt.org). E69G has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
E69K missense unknown SRSF2 E69K lies within the RRM domain of the Srsf2 protein (UniProt.org). E69K has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
G104E missense unknown SRSF2 G104E does not lie within any known functional domains of the Srsf2 protein (UniProt.org). G104E has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
G93_H100del deletion unknown SRSF2 G93_H100del results in the deletion of 8 amino acids of the Srsf2 protein from amino acids 93 to 100 (UniProt.org). G93_H100del has been identified in the scientific literature (PMID: 31426461), but has not been biochemically characterized and therefore, its effect on Srsf2 protein function is unknown (PubMed, Mar 2020).
inact mut unknown loss of function SRSF2 inact mut indicates that this variant results in a loss of function of the Srsf2 protein. However, the specific amino acid change has not been identified.
K172_S173del deletion unknown SRSF2 K172_S173del results in the deletion of two amino acids in the RS domain of the Srsf2 protein from amino acids 172 to 173 (UniProt.org). K172_S173del has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
K207* nonsense unknown SRSF2 K207* results in a premature truncation of the Srsf2 protein at amino acid 207 of 221 (UniProt.org). K207* has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
K52N missense unknown SRSF2 K52N lies within the RRM domain of the Srsf2 protein (UniProt.org). K52N has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
M13I missense unknown SRSF2 M13I does not lie within any known functional domains of the Srsf2 protein (UniProt.org). M13I has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
M1? unknown loss of function - predicted SRSF2 M1? indicates a disruption of the methionine (M) start codon with an unknown translational effect on the Srsf2 protein. M1? has not been characterized and therefore, its effect on Srsf1 protein function is unknown (PubMed, Nov 2019).
mutant unknown unknown SRSF2 mutant indicates an unspecified mutation in the SRSF2 gene.
P209T missense unknown SRSF2 P209T lies within the RS domain of the Srsf2 protein (UniProt.org). P209T has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
P95del deletion unknown SRSF2 P95del results in the deletion of one amino acid of the Srsf2 protein at amino acid 95 (UniProt.org). P95del has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Apr 2020).
P95fs frameshift unknown SRSF2 P95fs results in a change in the amino acid sequence of the Srsf2 protein beginning at aa 95 of 221, likely resulting in premature truncation of the functional protein (UniProt.org). P95fs has been identified in sequencing studies (PMID: 22343920), but has not been biochemically characterized and therefore, its effect on Srsf2 protein function is unknown (PubMed, Apr 2020).
P95H missense loss of function SRSF2 P95H is a hotspot mutation that lies within the linker region between the RRM and RS domains of the Srsf2 protein (PMID: 26261309). P95H results in similar cell proliferation and viability levels to wild-type Srsf2 (PMID: 29533785), however, results in altered binding affinity of Srsf2 to specific RNA sites, and leads to disrupted regulation of splicing events (PMID: 26261309, PMID: 31040863) and enhanced mRNA decay in cell culture (PMID: 32001512).
P95L missense loss of function SRSF2 P95L does not lie within any known functional domains of the Srsf2 protein (UniProt.org). P95L results in increased pre-mRNA and mRNA binding affinity and disrupted splicing pattern compared to wild-type Srsf2 in vitro (PMID: 31040863) and enhanced mRNA decay in cell culture (PMID: 32001512).
P95R missense loss of function SRSF2 P95R is within a hotspot mutation location that lies within the linker region between the RRM and RS domains of the Srsf2 protein (PMID: 26261309). P95R results in similar cell proliferation and viability levels to wild-type Srsf2 (PMID: 29533785), however, results in increased pre-mRNA and mRNA binding affinity and disrupted splicing pattern compared to wild-type Srsf2 in vitro (PMID: 31040863), and enhanced mRNA decay in cell culture (PMID: 32001512).
P95X missense unknown SRSF2 P95X indicates any Srsf2 missense mutation that results in the replacement of the proline (P) at amino acid 95 by a different amino acid.
P95_P96insR insertion unknown SRSF2 P95_P96insR results in the insertion of one amino acid in the Srsf2 protein between amino acids 95 and 96 (UniProt.org). P95_P96insR has been identified in the scientific literature (PMID: 27135740), but has not been biochemically characterized and therefore, its effect on Srf2 protein function is unknown (PubMed, May 2020).
P95_R102del deletion no effect - predicted SRSF2 P95_R102del results in the deletion of 8 amino acids of the Srsf2 protein from amino acids 95 to 102 (UniProt.org). P95_R102del has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Srsf2 (PMID: 29533785).
P96Rfs*136 frameshift unknown SRSF2 P96Rfs*136 indicates a shift in the reading frame starting at amino acid 96 and terminating 136 residues downstream causing a premature truncation of the 221 amino acid Srsf2 protein (UniProt.org). P96Rfs*136 has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
R123W missense unknown SRSF2 R123W lies within the RS domain of the Srsf2 protein (UniProt.org). R123W has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
R129* nonsense unknown SRSF2 R129* results in a premature truncation of the Srsf2 protein at amino acid 129 of 221 (UniProt.org). R129* has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
R129G missense unknown SRSF2 R129G lies within the RS domain of the Srsf2 protein (UniProt.org). R129G has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
R129L missense unknown SRSF2 R129L lies within the RS domain of the Srsf2 protein (UniProt.org). R129L has been identified in sequencing studies (PMID: 28493366), but has not been biochemically characterized and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
R152S missense unknown SRSF2 R152S does not lie within any known functional domains of the Srsf2 protein (UniProt.org). R152S has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
R152_S159del deletion unknown SRSF2 R152_S159del results in the deletion of 8 amino acids in the RS domain of the Srsf2 protein from amino acids 152 to 159 (UniProt.org). R152_S159del has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
R167L missense unknown SRSF2 R167L lies within the RS domain of the Srsf2 protein (UniProt.org). R167L has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
R167Q missense unknown SRSF2 R167Q lies within the RS domain of the Srsf2 protein (UniProt.org). R167Q has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
R168K missense unknown SRSF2 R168K lies within the RS domain of the Srsf2 protein (UniProt.org). R168K has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
R205L missense unknown SRSF2 R205L lies within the RS domain of the Srsf2 protein (UniProt.org). R205L has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
S101fs frameshift unknown SRSF2 S101fs results in a change in the amino acid sequence of the Srsf2 protein beginning at aa 101 of 221, likely resulting in premature truncation of the functional protein (UniProt.org). S101fs has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
S101Rfs*21 frameshift unknown SRSF2 S101Rfs*21 indicates a shift in the reading frame starting at amino acid 101 and terminating 21 residues downstream causing a premature truncation of the 221 amino acid Srsf2 protein (UniProt.org). S101Rfs*21 has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, May 2020).
S136C missense unknown SRSF2 S136C lies within the RS domain of the Srsf2 protein (UniProt.org). S136C has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
S15F missense unknown SRSF2 S15F lies within the RRM domain of the Srsf2 protein (UniProt.org). S15F has been identified in sequencing studies (PMID: 24662767), but has not been biochemically characterized and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
S171Y missense unknown SRSF2 S171Y lies within the RS domain of the Srsf2 protein (UniProt.org). S171Y has been identified in sequencing studies (PMID: 25401301), but has not been biochemically characterized and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
S174_S179del deletion unknown SRSF2 S174_S179del results in the deletion of 6 amino acids in the RS domain of the Srsf2 protein from amino acids 174 to 179 (UniProt.org). S174_S179del has been identified in the scientific literature (PMID: 31426461), but has not been biochemically characterized and therefore, its effect on Srsf2 protein function is unknown (PubMed, Mar 2020).
S179C missense unknown SRSF2 S179C lies within the RS domain of the Srsf2 protein (UniProt.org). S179C has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
S187Y missense unknown SRSF2 S187Y lies within the RS domain of the Srsf2 protein (UniProt.org). S187Y has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
S220C missense unknown SRSF2 S220C lies within the RS domain of the Srsf2 protein (UniProt.org). S220C has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
T51I missense unknown SRSF2 T51I lies within the RRM domain of the Srsf2 protein (UniProt.org). T51I has been identified in sequencing studies (PMID: 26214590), but has not been biochemically characterized and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
V195L missense unknown SRSF2 V195L lies within the RS domain of the Srsf2 protein (UniProt.org). V195L has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
wild-type none no effect Wild-type SRSF2 indicates that no mutation has been detected within the SRSF2 gene.
Y110C missense unknown SRSF2 Y110C does not lie within any known functional domains of the Srsf2 protein (UniProt.org). Y110C has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
Y37C missense unknown SRSF2 Y37C lies within the RRM domain of the Srsf2 protein (UniProt.org). Y37C has not been characterized in the scientific literature and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
Y44H missense unknown SRSF2 Y44H lies within the RRM domain of the Srsf2 protein (UniProt.org). Y44H has been identified in sequencing studies (PMID: 22343920), but has not been biochemically characterized and therefore, its effect on Srsf2 protein function is unknown (PubMed, Sep 2020).
Y92_H100del deletion unknown SRSF2 Y92_H100del results in the deletion of 9 amino acids of the Srsf2 protein from amino acids 92 to 100 (UniProt.org). Y92_H100del has been identified in the scientific literature (PMID: 31426461), but has not been biochemically characterized and therefore, its effect on Srsf2 protein function is unknown (PubMed, Mar 2020).
Y92_H99del deletion unknown SRSF2 Y92_H99del results in the deletion of 8 amino acids of the Srsf2 protein from amino acids 92 to 99 (UniProt.org). Y92_H99del has been identified in the scientific literature (PMID: 31426461), but has not been biochemically characterized and therefore, its effect on Srsf2 protein function is unknown (PubMed, Mar 2020).