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Gene | ATM |
Variant | L581V |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | ATM L581V does not lie within any known functional domains of the Atm protein (UniProt.org). L581V restores cell viability of ATM-deficient cells upon irradiation in culture (PMID: 29059438) and therefore, is predicted to have no effect on Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM L581V |
Transcript | NM_000051.4 |
gDNA | chr11:g.108251970T>G |
cDNA | c.1741T>G |
Protein | p.L581V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |