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Gene | ATM |
Variant | A2067D |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | ATM A2067D lies within the FAT domain of the Atm protein (UniProt.org). A2067D confers a loss of function to Atm, resulting in reduced Atm protein expression and decreased Atm kinase activity in cell culture (PMID: 25077176). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM A2067D |
Transcript | NM_000051.4 |
gDNA | chr11:g.108317374C>A |
cDNA | c.6200C>A |
Protein | p.A2067D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |