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Gene | ATM |
Variant | A2308T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM A2308T lies within the FAT domain of the Atm protein (UniProt.org). A2308T has been identified in sequencing studies (PMID: 24145436, PMID: 33007380), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Apr 2025). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM A2308T |
Transcript | NM_000051.4 |
gDNA | chr11:g.108326172G>A |
cDNA | c.6922G>A |
Protein | p.A2308T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |