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ATM Y2019C - Gene Variant Detail

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Gene ATM
Variant Y2019C
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM Y2019C lies within the FAT domain of the Atm protein (UniProt.org). Y2019C retains Atm expression but results in decreased phosphorylation of Atm 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 Y2019C

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Transcript NM_000051.4
gDNA chr11:g.108315872A>G
cDNA c.6056A>G
Protein p.Y2019C
Source Database RefSeq
Genome Build GRCh38/hg38

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  • 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")

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