ATM S1993Rfs*23
Gene Variant Detail

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Gene ATM
Variant S1993Rfs*23
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM S1993Rfs*23 indicates a shift in the reading frame starting at amino acid 1993 and terminating 23 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). S1993Rfs*23 is associated with the loss of Atm expression and phosphorylation in patient samples (PMID: 36555667), and due to the effects of other truncation mutations downstream of S1993 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM S1993fs ATM S1993Rfs*23

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Transcript NM_000051.4
gDNA chr11:g.(108312469_108315864)
cDNA c.(5977_6048)
Protein p.S1993Rfs*23
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "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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