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 | I2888T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM I2888T lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). I2888T has been identified in the scientific literature (PMID: 12697903, PMID: 23091097, PMID: 33975862), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2025). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM I2888T |
Transcript | NM_000051.4 |
gDNA | chr11:g.108347357T>C |
cDNA | c.8663T>C |
Protein | p.I2888T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |