Gene Variant Detail

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Gene ASXL1
Variant S1028L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ASXL1 S1028L does not lie within any known functional domains of the Asxl1 protein (UniProt.org). S1028L has been identified in sequencing studies (PMID: 29249691), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Jul 2020).
Associated Drug Resistance

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Transcript NM_015338
gDNA chr20:g.32435795C>T
cDNA c.3083C>T
Protein p.S1028L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017027706 chr20:g.32435947_32435948delTCinsCT c.3082_3083delTCinsCT p.S1028L RefSeq GRCh38/hg38
NM_015338 chr20:g.32435795C>T c.3083C>T p.S1028L RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • 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
ASXL1 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic ASXL1 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
ASXL1 mutant myelodysplastic syndrome not applicable N/A Clinical Study Prognostic In clinical analyses, mutations in ASXL1 were associated with poor prognosis in patients with myelodysplastic syndrome (PMID: 24220272, PMID: 21714648). 24220272 21714648
ASXL1 mutant acute myeloid leukemia not applicable N/A Guideline Prognostic ASXL1 mutations are associated with a poor/adverse prognosis in patients with non-APL acute myeloid leukemia (NCCN.org). detail...
ASXL1 mutant chronic myelomonocytic leukemia not applicable N/A Guideline Prognostic ASXL1 mutations are associated with a poor prognosis in patients with chronic myelomonocytic leukemia (NCCN.org). detail...
ASXL1 mutant acute myeloid leukemia predicted - sensitive CG-806 Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived acute myeloid leukemia cells harboring ASXL1 mutations were sensitive to CG-806 in culture (Proceedings of the American Association for Cancer Research, Vol 60, Mar 2019, Abstract #1323). detail...
ASXL1 mutant polycythemia vera not applicable N/A Guideline Prognostic ASXL1 mutations are associated with inferior overall survival and myelofibrosis-free survival in patients with polycythemia vera (NCCN.org). detail...
ASXL1 mutant acute myeloid leukemia predicted - resistant Sunitinib Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived acute myeloid leukemia cells harboring ASXL1 mutations were resistant to Sutent (sunitinib) in culture (Proceedings of the American Association for Cancer Research, Vol 60, Mar 2019, Abstract #1323). detail...
ASXL1 mutant myelofibrosis not applicable N/A Guideline Prognostic ASXL1 mutations are associated with inferior overall survival and leukemia-free survival in patients with myelofibrosis (NCCN.org). detail...
Molecular Profile Protein Effect Treatment Approaches
ASXL1 S1028L unknown