Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene ASXL1
Variant G42*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ASXL1 G42* results in a premature truncation of the Asxl1 protein at amino acid 42 of 1541 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), G42* is predicted to lead to a loss of Asxl1 protein function.
Associated Drug Resistance

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • 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"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Transcript NM_015338
gDNA chr20:g.32366450G>T
cDNA c.124G>T
Protein p.G42*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006723727 chr20:g.32366450G>T c.124G>T p.G42* RefSeq GRCh38/hg38
NM_015338 chr20:g.32366450G>T c.124G>T p.G42* RefSeq GRCh38/hg38
NM_001164603 chr20:g.32366450G>T c.124G>T p.G42* RefSeq GRCh38/hg38
XM_017027706 chr20:g.32366450G>T c.124G>T p.G42* RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • 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"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

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 inact mut myelodysplastic/myeloproliferative neoplasm not applicable N/A Clinical Study Prognostic In multiple clinical studies, nonsense and frameshift mutations in ASXL1 were associated with decreased overall survival in patients with chronic myelomonocytic leukemia (PMID: 26849014, PMID: 23690417, PMID: 20880116). 20880116 26849014 23690417
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 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 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 - 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 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 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...
Molecular Profile Protein Effect Treatment Approaches
ASXL1 G42* loss of function - predicted