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 | G2765S |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | ATM G2765S lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). G2765S results in decreased protein expression, loss of phosphorylation of Atm downstream targets, and defective G2/M checkpoint in response to irradiation in culture (PMID: 19431188). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM G2765S |
Transcript | NM_000051.4 |
gDNA | chr11:g.108343246G>A |
cDNA | c.8293G>A |
Protein | p.G2765S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |