ATM S751*
Gene Variant Detail

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Gene ATM
Variant S751*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM S751* results in a premature truncation of the Atm protein at amino acid 751 of 3056 (UniProt.org). S751* is associated with loss of Atm expression and phosphorylation in patient samples in the context of S1135_K1192del (PMID: 32748564), and due to the effects of other truncation mutations downstream of S751 (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 S751*

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Transcript NM_000051.4
gDNA chr11:g.108257482_108257483delCTinsAA
cDNA c.2252_2253delCTinsAA
Protein p.S751*
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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