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Gene | ATM |
Variant | V519I |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATM V519I does not lie within any known functional domains of the Atm protein (UniProt.org). V519I results in impaired ability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and therefore, is predicted to lead to a loss of Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM V519I |
Transcript | NM_000051.4 |
gDNA | chr11:g.108251020G>A |
cDNA | c.1555G>A |
Protein | p.V519I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |