Gene Detail

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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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Molecular Profile Protein Effect Treatment Approaches
SRSF2 amp no effect
SRSF2 del loss of function
SRSF2 E35Q unknown
SRSF2 E69G unknown
SRSF2 E69K unknown
SRSF2 G104E unknown
SRSF2 G93_H100del unknown
SRSF2 inact mut loss of function
SRSF2 K172_S173del unknown
SRSF2 K207* unknown
SRSF2 K52N unknown
SRSF2 M13I unknown
SRSF2 M1? loss of function - predicted
SRSF2 mutant unknown
SRSF2 P209T unknown
SRSF2 P95del unknown
SRSF2 P95fs unknown
SRSF2 P95H loss of function
KMT2A - MLLT3 SRSF2 P95H
SRSF2 P95L loss of function
SRSF2 P95R loss of function
SRSF2 P95X unknown
SRSF2 P95_P96insR unknown
SRSF2 P95_R102del no effect - predicted
SRSF2 P96Rfs*136 unknown
SRSF2 R123W unknown
SRSF2 R129* unknown
SRSF2 R129G unknown
SRSF2 R129L unknown
SRSF2 R152S unknown
SRSF2 R152_S159del unknown
SRSF2 R167L unknown
SRSF2 R167Q unknown
SRSF2 R168K unknown
SRSF2 R205L unknown
SRSF2 S101fs unknown
SRSF2 S101Rfs*21 unknown
SRSF2 S136C unknown
SRSF2 S15F unknown
SRSF2 S171Y unknown
SRSF2 S174_S179del unknown
SRSF2 S179C unknown
SRSF2 S187Y unknown
SRSF2 S220C unknown
SRSF2 T51I unknown
SRSF2 V195L unknown
SRSF2 wild-type no effect
SRSF2 Y110C unknown
SRSF2 Y37C unknown
SRSF2 Y44H unknown
SRSF2 Y92_H100del unknown
SRSF2 Y92_H99del unknown