Gene Variant Detail

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Gene ASXL1
Variant E635Rfs*15
Impact List frameshift
Protein Effect gain of function
Gene Variant Descriptions ASXL1 E635Rfs*15 indicates a shift in the reading frame starting at amino acid 635 and terminating 15 residues downstream causing a premature truncation of the 1541 amino acid Asxl1 protein (UniProt.org). E635Rfs*15 results in increased nuclear localization and catalytic activity of Bap1, reduced H2AK119 ubiquitination, and impaired myeloid differentiation compared to wild-type in cultured cells (PMID: 30013160), and therefore, leads to a gain of Asxl1 protein function.
Associated Drug Resistance

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Transcript NM_015338
gDNA chr20:g.(32434615_32434662)
cDNA c.(1903_1950)
Protein p.E635Rfs*15
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_015338 chr20:g.(32434615_32434662) c.(1903_1950) p.E635Rfs*15 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 Protein Effect Treatment Approaches
ASXL1 E635Rfs*15 gain of function
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References