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Gene | ATM |
Variant | I323V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM I323V does not lie within any known functional domains of the Atm protein (UniProt.org). I323V has been identified in sequencing studies (PMID: 24145436, PMID: 30107175), 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 I323V |
Transcript | NM_000051.4 |
gDNA | chr11:g.108247029A>G |
cDNA | c.967A>G |
Protein | p.I323V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |