ATM R2547_S2549del - Gene Variant Detail

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Gene ATM
Variant R2547_S2549del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM R2547_S2549del results in the deletion of three amino acids in the FAT domain of the Atm protein from amino acids 2547 to 2549 (UniProt.org). R2547_S2549del results in decreased protein expression and a loss of phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188), and therefore, is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM R2547_S2549del

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Transcript NM_000051.4
gDNA chr11:g.108331889_108331897delGAATTTCAA
cDNA c.7640_7648delGAATTTCAA
Protein p.R2547_S2549delRIS
Source Database RefSeq
Genome Build GRCh38/hg38

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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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