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Gene | ATM |
Variant | A3006T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM A3006T does not lie within any known functional domains of the Atm protein (UniProt.org). A3006T has been identified in sequencing studies (PMID: 27147599, PMID: 23415222, PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2025). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM A3006T |
Transcript | NM_000051.4 |
gDNA | chr11:g.108365353G>A |
cDNA | c.9016G>A |
Protein | p.A3006T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |