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Gene | ATM |
Variant | G514D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM G514D does not lie within any known functional domains of the Atm protein (UniProt.org). G514D has been identified in sequencing studies (PMID: 24728327, PMID: 11443540, PMID: 12473594), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM G514D |
Transcript | NM_000051.4 |
gDNA | chr11:g.108251006G>A |
cDNA | c.1541G>A |
Protein | p.G514D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |