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 | E1959K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM E1959K lies within the FAT domain of the Atm protein (UniProt.org). E1959K has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM E1959K |
Transcript | NM_000051.4 |
gDNA | chr11:g.108310272G>A |
cDNA | c.5875G>A |
Protein | p.E1959K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |