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 | Q3038* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM Q3038* results in a premature truncation of the Atm protein at amino acid 3038 of 3056 (UniProt.org). Q3038* has not been characterized in the scientific literature, and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2025). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM Q3038* |
Transcript | NM_000051.4 |
gDNA | chr11:g.108365449C>T |
cDNA | c.9112C>T |
Protein | p.Q3038* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |