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Gene | ATM |
Variant | S3027I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM S3027I lies within the FATC domain of the Atm protein (UniProt.org). S3027I has been identified in the scientific literature (PMID: 32265839), 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 S3027I |
Transcript | NM_000051.4 |
gDNA | chr11:g.108365417G>T |
cDNA | c.9080G>T |
Protein | p.S3027I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |