Gene Variant Detail

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Gene SRSF2
Variant S187Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions 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).
Associated Drug Resistance

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Transcript NM_001195427.1
gDNA chr17:g.76736267G>T
cDNA c.560C>A
Protein p.S187Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001195427.1 chr17:g.76736267G>T c.560C>A p.S187Y RefSeq GRCh38/hg38
XM_017024942.2 chr17:g.76736267G>T c.560C>A p.S187Y RefSeq GRCh38/hg38
XM_017024942 chr17:g.76736267G>T c.560C>A p.S187Y RefSeq GRCh38/hg38
NM_003016.4 chr17:g.76736267G>T c.560C>A p.S187Y RefSeq GRCh38/hg38
NM_001195427 chr17:g.76736267G>T c.560C>A p.S187Y RefSeq GRCh38/hg38
NM_003016 chr17:g.76736267G>T c.560C>A p.S187Y RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
SRSF2 mutant essential thrombocythemia not applicable N/A Guideline Prognostic The presence of at least one mutation in either SH2B3, IDH2, U2AF1, SRSF2, SF3B1, EZH2, TP53, or RUNX1 is associated with inferior overall survival in patients with essential thrombocythemia (NCCN.org). detail...
SRSF2 mutant chronic myelomonocytic leukemia sensitive H3B-8800 Preclinical - Pdx Actionable In a preclinical study, H3B-8800 inhibited tumor growth in patient-derived xenograft (PDX) models of chronic myelomonocytic leukemia harboring SRSF2 mutations, but not in SRSF2 wild-type PDX models (PMID: 29457796). 29457796
SRSF2 mutant myelofibrosis not applicable N/A Guideline Prognostic SRSF2 mutations are associated with inferior overall survival and leukemia-free survival in patients with myelofibrosis (NCCN.org). detail...
SRSF2 mutant myelodysplastic syndrome not applicable N/A Clinical Study Prognostic In multiple clinical studies, SRSF2 mutations were associated with shortened survival in patients with myelodysplastic syndrome (PMID: 26769228, PMID: 26508027). 26508027 26769228
SRSF2 mutant polycythemia vera not applicable N/A Guideline Prognostic SRSF2 mutations are associated with inferior overall survival in patients with polycythemia vera (NCCN.org). detail...
SRSF2 mutant acute myeloid leukemia predicted - sensitive CG-806 Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived acute myeloid leukemia cells harboring SRSF2 mutations were sensitive to CG-806 in culture (Proceedings of the American Association for Cancer Research, Vol 60, Mar 2019, Abstract #1323). detail...
SRSF2 mutant acute myeloid leukemia predicted - sensitive GSK3203591 Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived acute myeloid leukemia cell lines harboring mutations in U2AF1 (n=3), SRSF2 (n=9), or SF3B1 (n=4) demonstrated increased sensitivity to GSK3203591 compared to spliceosomal wild-type cell lines in culture (PMID: 31408619). 31408619
Molecular Profile Protein Effect Treatment Approaches
SRSF2 S187Y unknown