ATM A1742P
Gene Variant Detail

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Gene ATM
Variant A1742P
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM A1742P does not lie within any known functional domains of the Atm protein (UniProt.org). A1742P results in decreased kinase activity in patient cells also harboring an ATM truncating mutation (1058DelGT) (PMID: 16014569), and 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 A1742P

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Transcript NM_000051.4
gDNA chr11:g.108301694G>C
cDNA c.5224G>C
Protein p.A1742P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017791 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_005271562 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
NM_000051 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_017017790 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_011542843 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_011542845 chr11:g.108321380G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_006718843 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_011542845.2 chr11:g.108321380G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_011542840 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_005271561 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_017017792 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_017017789 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108301694G>C c.5224G>C p.A1742P RefSeq GRCh38/hg38

Filtering

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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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References