ATM M1484Rfs*15
Gene Variant Detail

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Gene ATM
Variant M1484Rfs*15
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM M1484Rfs*15 indicates a shift in the reading frame starting at amino acid 1484 and terminating 15 residues downstream causing a premature truncation of the 3056 amino acid Atm protein (UniProt.org). M1484Rfs*15 retains Atm expression and phosphorylation in patient samples (PMID: 36555667), however, due to the effects of other truncation mutations downstream of M1484 (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 M1484Rfs*15

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Transcript NM_000051.4
gDNA chr11:g.108292633delT
cDNA c.4451delT
Protein p.M1484Rfs*15
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

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  • 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

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