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Gene | ATM |
Variant | T2396S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM T2396S lies within the FAT domain of the Atm protein (UniProt.org). T2396S has been identified in the scientific literature (PMID: 19404735, PMID: 29036293, PMID: 25980754), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM T2396S |
Transcript | NM_000051.4 |
gDNA | chr11:g.108329118C>G |
cDNA | c.7187C>G |
Protein | p.T2396S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |