ATM Y175*
Gene Variant Detail

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Gene ATM
Variant Y175*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM Y175* results in a premature truncation of the Atm protein at amino acid 175 of 3056 (UniProt.org). Y175* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), 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 Y175*

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Transcript NM_000051.4
gDNA chr11:g.108243981T>A
cDNA c.525T>A
Protein p.Y175*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005271562.6 chr11:g.108243981T>A c.525T>A p.Y175* RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108243981T>A c.525T>A p.Y175* RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108243981T>A c.525T>A p.Y175* RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108243981T>A c.525T>A p.Y175* RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.108243981T>A c.525T>A p.Y175* RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108243981T>A c.525T>A p.Y175* RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108243981T>A c.525T>A p.Y175* RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108243981T>A c.525T>A p.Y175* RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108243981T>A c.525T>A p.Y175* RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108243981T>A c.525T>A p.Y175* RefSeq 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries