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Gene | ATM |
Variant | P2699S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM P2699S lies within the ATP-binding pocket of the Atm protein (PMID: 21993670). P2699S is predicted to impair the kinase activity of Atm based on structural modeling (PMID: 21993670), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM P2699S |
Transcript | NM_000051.4 |
gDNA | chr11:g.108335053C>T |
cDNA | c.8095C>T |
Protein | p.P2699S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |