Gene Variant Detail

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Gene SRSF2
Variant P95R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions 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).
Associated Drug Resistance

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Transcript NM_001195427.1
gDNA chr17:g.76736877G>C
cDNA c.284C>G
Protein p.P95R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017024942.2 chr17:g.76736877G>C c.284C>G p.P95R RefSeq GRCh38/hg38
NM_001195427 chr17:g.76736877G>C c.284C>G p.P95R RefSeq GRCh38/hg38
NM_003016 chr17:g.76736877G>C c.284C>G p.P95R RefSeq GRCh38/hg38
NM_003016.4 chr17:g.76736877G>C c.284C>G p.P95R RefSeq GRCh38/hg38
XM_017024942 chr17:g.76736877G>C c.284C>G p.P95R RefSeq GRCh38/hg38
NM_001195427.1 chr17:g.76736877G>C c.284C>G p.P95R RefSeq GRCh38/hg38

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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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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 P95X myelodysplastic syndrome not applicable N/A Guideline Prognostic SRSF2 P95X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
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 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 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 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 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 P95R loss of function