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Gene | ATM |
Variant | N1650S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM N1650S does not lie within any known functional domains of the Atm protein (UniProt.org). N1650S results in impaired Atm phosphorylation of Tp53 and Chek2 in cultured cells (PMID: 12969974), but in another study restores cell viability of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, its effect on Atm protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM N1650S |
Transcript | NM_000051.4 |
gDNA | chr11:g.108297326A>G |
cDNA | c.4949A>G |
Protein | p.N1650S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |