Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | ATM |
Variant | I124V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM I124V does not lie within any known functional domains of the Atm protein (UniProt.org). I124V has been identified in sequencing studies (PMID: 12673804, PMID: 28076423), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2025). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM I124V |
Transcript | NM_000051.4 |
gDNA | chr11:g.108235708A>G |
cDNA | c.370A>G |
Protein | p.I124V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |