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| Gene | ATM |
| Variant | K1992T |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | ATM K1992T lies within the FAT domain of the Atm protein (UniProt.org). K1992T demonstrates the ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells (PMID: 23585524), and therefore, is predicted to have no effect on Atm protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
ATM mutant ATM K1992T |
| Transcript | NM_000051.4 |
| gDNA | chr11:g.108312467A>C |
| cDNA | c.5975A>C |
| Protein | p.K1992T |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |