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Gene | ATM |
Variant | N2875K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM N2875K lies within the PI3K/PI4K protein kinase domain of the Atm protein (UniProt.org). N2875K results in a loss of kinase activity with a co-occuring ATM D2870A (PMID: 9733515), but has not been individually characterized and therefore, its effect on Atm protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM N2875K |
Transcript | NM_000051.4 |
gDNA | chr11:g.108347319T>G |
cDNA | c.8625T>G |
Protein | p.N2875K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |