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ATM R250Sfs*3 - Gene Variant Detail

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Gene ATM
Variant R250Sfs*3
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM R250Sfs*3 indicates a shift in the reading frame starting at amino acid 250 and terminating 3 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). R250Sfs*3 has not been characterized, however, due to the effects of other truncation mutations downstream of R250 (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 R250Sfs*3

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Transcript NM_000051.4
gDNA chr11:g.108244873_108244874delCG
cDNA c.748_749delCG
Protein p.R250Sfs*3
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
  • 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.