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Gene | ATM |
Variant | R2526S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM R2526S lies within the FAT domain of the Atm protein (UniProt.org). R2526S has been identified in sequencing studies (PMID: 24145436), 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 R2526S |
Transcript | NM_000051.4 |
gDNA | chr11:g.108331506A>C |
cDNA | c.7578A>C |
Protein | p.R2526S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |