Gene Variant Detail

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Gene ASXL1
Variant E997*
Impact List nonsense
Protein Effect gain of function - predicted
Gene Variant Descriptions ASXL1 E997* results in a premature truncation of the Asxl1 protein at amino acid 997 of 1541 (UniProt.org). E997* has not been characterized, however, due to the effects of other truncation mutations upstream of E997 (PMID: 26095772, PMID: 27214377, PMID: 30013160), is predicted to lead to a gain of Asxl1 protein function.
Associated Drug Resistance

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Transcript NM_015338
gDNA chr20:g.32435701G>T
cDNA c.2989G>T
Protein p.E997*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_015338 chr20:g.32435701G>T c.2989G>T p.E997* 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
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Molecular Profile Protein Effect Treatment Approaches
ASXL1 E997* gain of function - predicted
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References