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Gene | ATM |
Variant | A2274T |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | ATM A2274T lies within the FAT domain of the Atm protein (UniProt.org). A2274T results in phosphorylation levels of Atm and downstream targets similar to wild-type Atm in response to irradiation in cultured cells (PMID: 19431188), and leads to kinase activity, radiosensitivity, and radiation-induced chromosome aberrations similar to wild-type protein in cultured cells (PMID: 11805335), and therefore, is predicted to have no effect on Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM A2274T |
Transcript | NM_000051.4 |
gDNA | chr11:g.108326070G>A |
cDNA | c.6820G>A |
Protein | p.A2274T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |