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Gene ASXL1
Variant G646fs
Impact List frameshift
Protein Effect gain of function - predicted
Gene Variant Descriptions ASXL1 G646fs results in a change in the amino acid sequence of the Asxl1 protein beginning at aa 646 of 1541, likely resulting in premature truncation of the functional protein (UniProt.org). G646fs has not been characterized, however, based on the effects of a similar frameshift at G646 (PMID: 26095772), it is predicted to lead to a gain of Asxl1 protein function.
Associated Drug Resistance

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Transcript NM_015338
gDNA chr20:g.(32434647_32434648)
cDNA c.(1936_1935)
Protein p.G646fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_015338 chr20:g.(32434647_32434648) c.(1936_1935) p.G646fs RefSeq GRCh38/hg38

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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 )
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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
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 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...
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 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 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 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 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 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...
Molecular Profile Protein Effect Treatment Approaches
ASXL1 G646fs gain of function - predicted