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Gene | ATM |
Variant | R3008C |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | ATM R3008C does not lie within any known functional domains of the Atm protein (UniProt.org). R3008C retains foci formation after DNA damage (PMID: 19431188), but results in decreased phosphorylation of Atm and downstream targets (PMID: 18573109), loss of kinase activity and defective G2/M checkpoint after DNA damage in culture (PMID: 19431188), and failure to induce Tp53 target gene expression in patient-derived cells (PMID: 23585524). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM R3008C ATM mutant ATM R3008X ATM R3008C |
Transcript | NM_000051.4 |
gDNA | chr11:g.108365359C>T |
cDNA | c.9022C>T |
Protein | p.R3008C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |