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 | P1235L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM P1235L does not lie within any known functional domains of the Atm protein (UniProt.org). P1235L is associated with retention of Atm expression in patient samples (PMID: 36555667), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2025). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM P1235L |
Transcript | NM_000051.4 |
gDNA | chr11:g.108282837C>T |
cDNA | c.3704C>T |
Protein | p.P1235L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |