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Gene | ATM |
Variant | H2872R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM H2872R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). H2872R has not been characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM H2872R |
Transcript | NM_000051.4 |
gDNA | chr11:g.108347309A>G |
cDNA | c.8615A>G |
Protein | p.H2872R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |