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Gene | ATM |
Variant | N3033* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | ATM N3033* results in a premature truncation of the Atm protein at amino acid 3033 of 3056 (UniProt.org). N3033* results in a loss of binding to Tip60, and loss of DNA damage-induced Atm phosphorylation, acetylation, and kinase activity in cell culture (PMID: 16603769). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM N3033* |
Transcript | NM_000051.4 |
gDNA | chr11:g.108365434_108365436delAATinsTAA |
cDNA | c.9097_9099delAATinsTAA |
Protein | p.N3033* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |